#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
OR10Z1	128368	broad.mit.edu	37	1	158576474	158576474	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158576474C>T	ENST00000361284.1	+	1	246	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAGAATGCTCTCTGGCCTGG	0.547																																						ENST00000361284.1																			1	Substitution - coding silent(1)	p.L82L(1)	lung(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(244-246)ctC>ctT		olfactory receptor, family 10, subfamily Z, member 1							202.0	208.0	206.0					1																	158576474		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576474C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.246C>T	1.37:g.158576474C>T							p.L82L	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	246	+	all_hematologic(112;0.0378)		82					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.246C>T	CCDS30901.1																																																																																				0.547	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		67	144	0	0	0	1	0	67	144				
DBX1	120237	broad.mit.edu	37	11	20178009	20178009	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:20178009C>T	ENST00000524983.2	-	4	1071	c.783G>A	c.(781-783)ccG>ccA	p.P261P	DBX1_ENST00000227256.3_Silent_p.P300P			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	261					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGTCCGGGTGCGGATTGAGCT	0.677																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(781-783)ccG>ccA		developing brain homeobox 1							16.0	18.0	17.0					11																	20178009		2202	4298	6500	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178009C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.783G>A	11.37:g.20178009C>T						DBX1_ENST00000227256.3_Silent_p.P300P	p.P261P			A6NMT0	DBX1_HUMAN			4	1071	-			261						Silent	SNP	ENST00000524983.2	37	c.783G>A																																																																																					0.677	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		10	27	0	0	0	1	0	10	27				
C3orf17	25871	broad.mit.edu	37	3	112732831	112732831	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:112732831T>C	ENST00000314400.5	-	3	501	c.310A>G	c.(310-312)Att>Gtt	p.I104V	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000383675.2_Missense_Mutation_p.I104V|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	104					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGGTCTTGAATTGAGCCCTCC	0.413																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(310-312)Att>Gtt		chromosome 3 open reading frame 17							210.0	206.0	208.0					3																	112732831		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112732831T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.310A>G	3.37:g.112732831T>C	ENSP00000320251:p.Ile104Val					C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.I104V	p.I104V	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			3	501	-			104					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.310A>G	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	8.847	0.943582	0.18281	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000472166	T;T;T	0.46063	0.88;0.88;0.88	5.58	1.76	0.24704	.	0.218686	0.48767	N	0.000176	T	0.33818	0.0876	L	0.60455	1.87	0.80722	D	1	B;B;B	0.19935	0.04;0.001;0.009	B;B;B	0.23018	0.043;0.003;0.016	T	0.07693	-1.0759	10	0.32370	T	0.25	-10.8136	5.724	0.18002	0.0:0.1495:0.1414:0.7092	.	7;104;104	E7EN80;Q6NW34-2;Q6NW34	.;.;CC017_HUMAN	V	104;104;29	ENSP00000320251:I104V;ENSP00000373173:I104V;ENSP00000417613:I29V	ENSP00000320251:I104V	I	-	1	0	C3orf17	114215521	0.889000	0.30405	0.859000	0.33776	0.381000	0.30169	0.382000	0.20635	0.125000	0.18397	-1.444000	0.01066	ATT		0.413	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		148	204	0	0	0	1	0	148	204				
MSL3	10943	broad.mit.edu	37	X	11790285	11790285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:11790285G>A	ENST00000312196.4	+	11	1397	c.1292G>A	c.(1291-1293)tGg>tAg	p.W431*	MSL3_ENST00000380693.3_Nonsense_Mutation_p.W265*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.W419*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.W282*	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	431	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTCCTCTCCTGGAAGCTTGTG	0.448																																						ENST00000380693.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(793-795)tGg>tAg		male-specific lethal 3 homolog (Drosophila)							130.0	120.0	124.0					X																	11790285		2203	4300	6503	SO:0001587	stop_gained	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790285G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1292G>A	X.37:g.11790285G>A	ENSP00000312244:p.Trp431*					MSL3_ENST00000361672.2_Nonsense_Mutation_p.W282*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.W419*|MSL3_ENST00000312196.4_Nonsense_Mutation_p.W431*	p.W265*	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN			10	1431	+			431					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Nonsense_Mutation	SNP	ENST00000312196.4	37	c.794G>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	40	8.175820	0.98691	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8928	0.86092	0.0:0.0:1.0:0.0	.	.	.	.	X	431;282;419;265	.	ENSP00000312244:W431X	W	+	2	0	MSL3	11700206	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	8.633000	0.90999	1.993000	0.58246	0.600000	0.82982	TGG		0.448	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		83	50	0	0	0	1	0	83	50				
KANK3	256949	broad.mit.edu	37	19	8389896	8389896	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:8389896T>A	ENST00000593649.1	-	8	2086	c.2021A>T	c.(2020-2022)gAg>gTg	p.E674V	KANK3_ENST00000330915.3_Missense_Mutation_p.E674V			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	674										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGCCATGTCCTCCTCTTCCTG	0.632																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2020-2022)gAg>gTg		KN motif and ankyrin repeat domains 3							60.0	59.0	59.0					19																	8389896		2203	4300	6503	SO:0001583	missense	256949							g.chr19:8389896T>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2021A>T	19.37:g.8389896T>A	ENSP00000470728:p.Glu674Val					KANK3_ENST00000593649.1_Missense_Mutation_p.E674V	p.E674V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			8	2086	-			674					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.2021A>T		.	.	.	.	.	.	.	.	.	.	T	16.37	3.104693	0.56291	.	.	ENSG00000186994	ENST00000330915	T	0.29917	1.55	4.67	3.62	0.41486	.	.	.	.	.	T	0.45975	0.1369	L	0.55990	1.75	0.38109	D	0.937502	D	0.76494	0.999	D	0.67382	0.951	T	0.46789	-0.9166	9	0.54805	T	0.06	-25.0587	10.3596	0.43984	0.0:0.0:0.1651:0.8349	.	674	Q6NY19-2	.	V	674	ENSP00000328923:E674V	ENSP00000328923:E674V	E	-	2	0	KANK3	8295896	1.000000	0.71417	0.926000	0.36857	0.645000	0.38454	4.588000	0.60999	0.771000	0.33359	0.459000	0.35465	GAG		0.632	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		27	49	0	0	0	1	0	27	49				
KLHL14	57565	broad.mit.edu	37	18	30260493	30260493	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:30260493G>A	ENST00000359358.4	-	6	1746	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	436						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGACAAGTAGCCAGTTTCAT	0.473																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1306-1308)ggC>ggT		kelch-like family member 14							94.0	91.0	92.0					18																	30260493		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260493G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1308C>T	18.37:g.30260493G>A							p.G436G	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			6	1746	-			436					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.1308C>T	CCDS32813.1																																																																																				0.473	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			7	42	0	0	0	1	0	7	42				
TPM3P9	147804	broad.mit.edu	37	19	53945872	53945872	+	RNA	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53945872C>G	ENST00000424846.3	+	0	869				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ATGCCCCAGTCCCACCCTGCT	0.532																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945872C>G			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945872C>G						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.532	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		10	57	0	0	0	1	0	10	57				
PHF14	9678	broad.mit.edu	37	7	11053505	11053505	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:11053505G>C	ENST00000403050.3	+	5	1629	c.1177G>C	c.(1177-1179)Gga>Cga	p.G393R	PHF14_ENST00000445996.2_Missense_Mutation_p.G108R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	393					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAATCAGGATGGAATTTTCAA	0.393																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1177-1179)Gga>Cga		PHD finger protein 14							192.0	177.0	182.0					7																	11053505		1916	4133	6049	SO:0001583	missense	9678						zinc ion binding	g.chr7:11053505G>C	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1177G>C	7.37:g.11053505G>C	ENSP00000385795:p.Gly393Arg					PHF14_ENST00000445996.2_Missense_Mutation_p.G108R	p.G393R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	5	1629	+			393					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1177G>C	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849629	0.91277	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.34072	1.38;1.38	4.96	4.96	0.65561	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	T	0.78713	-0.2097	10	0.87932	D	0	.	18.3969	0.90502	0.0:0.0:1.0:0.0	.	108;108;393;393	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	R	393;108	ENSP00000385795:G393R;ENSP00000403907:G108R	ENSP00000385795:G393R	G	+	1	0	PHF14	11020030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.551000	0.98112	2.571000	0.86741	0.650000	0.86243	GGA		0.393	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		11	23	0	0	0	1	0	11	23				
NSD1	64324	broad.mit.edu	37	5	176700720	176700720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:176700720G>T	ENST00000439151.2	+	17	5602	c.5557G>T	c.(5557-5559)Gag>Tag	p.E1853*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1750*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1584*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1853					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCCAAAAAGAGCTAAGACA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5557-5559)Gag>Tag		nuclear receptor binding SET domain protein 1							101.0	105.0	104.0					5																	176700720		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176700720G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5557G>T	5.37:g.176700720G>T	ENSP00000395929:p.Glu1853*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1750*	p.E1853*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	17	5602	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1853					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5557G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	45	11.305315	0.99544	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032;ENST00000503056	.	.	.	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.5071	0.95124	0.0:0.0:1.0:0.0	.	.	.	.	X	1584;1853;1584;1750;67	.	ENSP00000343209:E1584X	E	+	1	0	NSD1	176633326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.544000	0.98092	2.617000	0.88574	0.557000	0.71058	GAG		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		42	43	1	0	5.20837e-25	1	6.48153e-25	42	43				
TNFSF13	8741	broad.mit.edu	37	17	7463379	7463379	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7463379G>A	ENST00000338784.4	+	4	842	c.399G>A	c.(397-399)gtG>gtA	p.V133V	TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.V213V|TNFSF13_ENST00000380535.4_Silent_p.V105V|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000396542.1_Silent_p.V88V|TNFSF13_ENST00000349228.4_Silent_p.V117V|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396545.4_Silent_p.V133V|TNFSF12_ENST00000557233.1_Silent_p.V213V|SENP3_ENST00000321337.7_5'Flank	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	133					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				ACTCCGATGTGACAGAGGTGA	0.517											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349228.4																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(349-351)gtG>gtA		tumor necrosis factor (ligand) superfamily, member 13							97.0	92.0	94.0					17																	7463379		2203	4300	6503	SO:0001819	synonymous_variant	8741							g.chr17:7463379G>A	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.399G>A	17.37:g.7463379G>A			OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF13_ENST00000338784.4_Silent_p.V133V|TNFSF13_ENST00000380535.4_Silent_p.V105V|TNFSF13_ENST00000396545.4_Silent_p.V133V|TNFSF13_ENST00000483039.1_5'UTR|TNFSF12_ENST00000557233.1_Silent_p.V213V|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.V213V|TNFSF13_ENST00000396542.1_Silent_p.V88V	p.V117V	NM_172087.2	NP_742084.1					3	915	+		Prostate(122;0.157)						A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Silent	SNP	ENST00000338784.4	37	c.351G>A	CCDS11111.1																																																																																				0.517	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		32	71	0	0	0	1	0	32	71				
WNT3	7473	broad.mit.edu	37	17	44851059	44851059	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:44851059G>A	ENST00000225512.5	-	2	459	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	99					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCCAAAGATGGCCAGGCTGT	0.672																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(295-297)gcC>gcT		wingless-type MMTV integration site family, member 3							34.0	38.0	37.0					17																	44851059		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851059G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.297C>T	17.37:g.44851059G>A							p.A99A	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	459	-			99					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.297C>T	CCDS11505.1																																																																																				0.672	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		18	23	0	0	0	1	0	18	23				
TMTC2	160335	broad.mit.edu	37	12	83424619	83424619	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:83424619G>C	ENST00000321196.3	+	9	2820	c.2113G>C	c.(2113-2115)Gag>Cag	p.E705Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.E699Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	705					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGGCTATTGAGCTGGATCC	0.403																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2095-2097)Gag>Cag		transmembrane and tetratricopeptide repeat containing 2							211.0	190.0	197.0					12																	83424619		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83424619G>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2113G>C	12.37:g.83424619G>C	ENSP00000322300:p.Glu705Gln					TMTC2_ENST00000321196.3_Missense_Mutation_p.E705Q	p.E699Q			Q8N394	TMTC2_HUMAN			10	3900	+			705					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2095G>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	4.797	0.148261	0.09134	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	D;D	0.89415	-2.51;-2.51	5.53	4.58	0.56647	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.155728	0.64402	D	0.000020	T	0.78672	0.4320	N	0.20483	0.58	0.41511	D	0.988346	B	0.02656	0.0	B	0.06405	0.002	T	0.71227	-0.4655	10	0.10902	T	0.67	-18.1693	12.4016	0.55416	0.0:0.3285:0.6715:0.0	.	705	Q8N394	TMTC2_HUMAN	Q	705;699;460	ENSP00000322300:E705Q;ENSP00000447609:E699Q	ENSP00000322300:E705Q	E	+	1	0	TMTC2	81948750	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.648000	0.61425	2.764000	0.94973	0.557000	0.71058	GAG		0.403	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		22	73	0	0	0	1	0	22	73				
ZNF160	90338	broad.mit.edu	37	19	53572344	53572344	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53572344G>C	ENST00000429604.1	-	7	1858	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L	ZNF160_ENST00000418871.1_Missense_Mutation_p.F481L|ZNF160_ENST00000599056.1_Missense_Mutation_p.F481L|ZNF160_ENST00000601421.1_Missense_Mutation_p.F445L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	481					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTGCATTTGAAAGGTTTTG	0.393																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1333-1335)ttC>ttG		zinc finger protein 160							146.0	144.0	145.0					19																	53572344		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572344G>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1443C>G	19.37:g.53572344G>C	ENSP00000406201:p.Phe481Leu					ZNF160_ENST00000429604.1_Missense_Mutation_p.F481L|ZNF160_ENST00000418871.1_Missense_Mutation_p.F481L|ZNF160_ENST00000599056.1_Missense_Mutation_p.F481L	p.F445L			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2211	-			481					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1335C>G	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566183	0.27915	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.21932	1.98;1.98	2.57	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.28344	0.845	0.09310	N	1	B	0.31153	0.31	B	0.33846	0.171	T	0.33343	-0.9872	9	0.66056	D	0.02	.	8.0091	0.30342	0.5502:0.0:0.4498:0.0	.	481	Q9HCG1	ZN160_HUMAN	L	481	ENSP00000406201:F481L;ENSP00000409597:F481L	ENSP00000409597:F481L	F	-	3	2	ZNF160	58264156	0.000000	0.05858	0.009000	0.14445	0.163000	0.22366	-0.764000	0.04735	-0.322000	0.08615	-0.291000	0.09656	TTC		0.393	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		55	141	0	0	0	1	0	55	141				
NCAPD2	9918	broad.mit.edu	37	12	6618931	6618931	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:6618931A>C	ENST00000315579.5	+	3	975	c.176A>C	c.(175-177)cAc>cCc	p.H59P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.T34P|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	59	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATGCTGCAGCACTTTGATACT	0.433																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(175-177)cAc>cCc		non-SMC condensin I complex, subunit D2							155.0	155.0	155.0					12																	6618931		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6618931A>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.176A>C	12.37:g.6618931A>C	ENSP00000325017:p.His59Pro					NCAPD2_ENST00000545962.1_Missense_Mutation_p.T34P	p.H59P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			3	975	+			59			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.176A>C	CCDS8548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.91|13.91	2.376743|2.376743	0.42105|0.42105	.|.	.|.	ENSG00000010292|ENSG00000010292	ENST00000315579;ENST00000539714;ENST00000382457;ENST00000535602|ENST00000545962	T;T;T|T	0.53423|0.17854	2.43;0.62;1.2|2.25	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.044624|.	0.85682|.	D|.	0.000000|.	T|T	0.38772|0.38772	0.1053|0.1053	M|M	0.82323|0.82323	2.585|2.585	0.35064|0.35064	D|D	0.761817|0.761817	D;D|D	0.89917|0.56968	1.0;1.0|0.978	D;D|P	0.74348|0.54629	0.983;0.983|0.757	T|T	0.58352|0.58352	-0.7651|-0.7651	10|8	0.56958|.	D|.	0.05|.	-20.7226|-20.7226	15.4429|15.4429	0.75200|0.75200	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;59|34	B3KY03;Q15021|F5GZJ1	.;CND1_HUMAN|.	P|P	59|34	ENSP00000325017:H59P;ENSP00000444377:H59P;ENSP00000371895:H59P|ENSP00000444417:T34P	ENSP00000325017:H59P|.	H|T	+|+	2|1	0|0	NCAPD2|NCAPD2	6489192|6489192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	8.076000|8.076000	0.89503|0.89503	2.059000|2.059000	0.61396|0.61396	0.454000|0.454000	0.30748|0.30748	CAC|ACT		0.433	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		50	188	0	0	0	1	0	50	188				
LOC643733	643733	broad.mit.edu	37	11	104778250	104778250	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:104778250C>T	ENST00000532510.1	-	0	1182																											CACACATTCCCCCCAGGATGC	0.507																																						ENST00000532510.1																			0																																																			643733							g.chr11:104778250C>T																													11.37:g.104778250C>T														0	1182	-									RNA	SNP	ENST00000532510.1	37																																																																																						0.507	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			11	14	0	0	0	1	0	11	14				
TRIM42	287015	broad.mit.edu	37	3	140409854	140409854	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:140409854G>T	ENST00000286349.3	+	4	2096	c.1905G>T	c.(1903-1905)atG>atT	p.M635I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	635	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTTTGAGATGGAATTCTATG	0.418																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1903-1905)atG>atT		tripartite motif containing 42							147.0	135.0	139.0					3																	140409854		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140409854G>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1905G>T	3.37:g.140409854G>T	ENSP00000286349:p.Met635Ile						p.M635I	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			4	2096	+			635			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1905G>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023795	0.54683	.	.	ENSG00000155890	ENST00000286349	T	0.47528	0.84	5.82	4.95	0.65309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.153336	0.47093	N	0.000242	T	0.32941	0.0846	N	0.19112	0.55	0.33689	D	0.613064	B	0.18013	0.025	B	0.18561	0.022	T	0.42481	-0.9449	10	0.54805	T	0.06	-32.0411	10.6218	0.45484	0.088:0.0:0.912:0.0	.	635	Q8IWZ5	TRI42_HUMAN	I	635	ENSP00000286349:M635I	ENSP00000286349:M635I	M	+	3	0	TRIM42	141892544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.303000	0.43646	1.458000	0.47871	0.650000	0.86243	ATG		0.418	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		34	169	1	0	3.93418e-24	1	4.85987e-24	34	169				
ZNF519	162655	broad.mit.edu	37	18	14106177	14106177	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:14106177T>C	ENST00000590202.1	-	3	514	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	121					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAATATTCTATATTCTTTGTC	0.318																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(361-363)tAt>tGt		zinc finger protein 519							63.0	64.0	64.0					18																	14106177		2203	4298	6501	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14106177T>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.362A>G	18.37:g.14106177T>C	ENSP00000464872:p.Tyr121Cys					ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.Y121C	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	514	-			121						Missense_Mutation	SNP	ENST00000590202.1	37	c.362A>G	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	T	0.332	-0.955645	0.02267	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.782	-1.56	0.08532	.	.	.	.	.	T	0.13670	0.0331	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18618	-1.0331	8	0.37606	T	0.19	.	2.8138	0.05450	0.4107:0.0:0.0:0.5892	.	121	Q8TB69	ZN519_HUMAN	C	121	.	ENSP00000307908:Y121C	Y	-	2	0	ZNF519	14096177	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.430000	0.06973	-0.273000	0.09246	-1.124000	0.02001	TAT		0.318	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		45	41	0	0	0	1	0	45	41				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			21	69	0	0	0	1	0	21	69				
ZNF462	58499	broad.mit.edu	37	9	109691304	109691304	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:109691304A>T	ENST00000277225.5	+	3	5400	c.5111A>T	c.(5110-5112)tAc>tTc	p.Y1704F	ZNF462_ENST00000457913.1_Missense_Mutation_p.Y1704F|ZNF462_ENST00000441147.2_Missense_Mutation_p.Y549F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1704					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGTGTGCCTACACCAACCCC	0.567																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5110-5112)tAc>tTc		zinc finger protein 462							106.0	90.0	96.0					9																	109691304		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691304A>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5111A>T	9.37:g.109691304A>T	ENSP00000277225:p.Tyr1704Phe					ZNF462_ENST00000457913.1_Missense_Mutation_p.Y1704F|ZNF462_ENST00000441147.2_Missense_Mutation_p.Y549F	p.Y1704F			Q96JM2	ZN462_HUMAN			3	5400	+			1704					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5111A>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007862	0.75046	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.07216	3.21;3.6;3.94;3.92	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.14448	-1.0472	10	0.26408	T	0.33	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1704;1704	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	1704;1704;587;549	ENSP00000277225:Y1704F;ENSP00000414570:Y1704F;ENSP00000363818:Y587F;ENSP00000397306:Y549F	ENSP00000277225:Y1704F	Y	+	2	0	ZNF462	108731125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.308000	0.77769	0.533000	0.62120	TAC		0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		23	65	0	0	0	1	0	23	65				
PTPRS	5802	broad.mit.edu	37	19	5221131	5221131	+	Missense_Mutation	SNP	G	G	A	rs201447856		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:5221131G>A	ENST00000587303.1	-	19	3434	c.3335C>T	c.(3334-3336)aCg>aTg	p.T1112M	PTPRS_ENST00000357368.4_Missense_Mutation_p.T1112M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1108M|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1090M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T681M|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1113M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1090M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T681M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1112	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCGGTGACCGTCTGCTGGAG	0.617																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3337-3339)aCg>aTg		protein tyrosine phosphatase, receptor type, S		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	128.0	102.0	111.0		3335,2042,3269,2054	3.7	1.0	19		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	81,81,81,81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	1112/1949,681/1502,1090/1911,685/1506	5221131	3,13003	2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5221131G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3335C>T	19.37:g.5221131G>A	ENSP00000467537:p.Thr1112Met					PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1090M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T681M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1112M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1112M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1090M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T681M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1108M	p.T1113M			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	20	3571	-			1112			Fibronectin type-III 8.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3338C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474211	0.43942	0.0	3.49E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.55052	0.67;0.54;0.54;0.54;0.56	3.7	3.7	0.42460	Fibronectin, type III (2);	0.288044	0.28104	U	0.016592	T	0.47303	0.1438	N	0.22421	0.69	0.27353	N	0.956193	P;B;P;D;P;P	0.53885	0.72;0.237;0.947;0.963;0.888;0.886	P;B;P;P;P;B	0.55713	0.537;0.065;0.782;0.536;0.454;0.386	T	0.33317	-0.9873	10	0.56958	D	0.05	.	6.4983	0.22153	0.0:0.1596:0.5747:0.2657	.	694;681;685;1090;1112;707	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	M	707;1113;1112;1112;1103;1108;1090;694;685;681	ENSP00000361489:T1113M;ENSP00000349932:T1112M;ENSP00000262963:T1108M;ENSP00000269907:T1090M;ENSP00000327313:T681M	ENSP00000262963:T1108M	T	-	2	0	PTPRS	5172131	0.847000	0.29606	0.977000	0.42913	0.760000	0.43138	1.312000	0.33574	1.911000	0.55334	0.561000	0.74099	ACG		0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			44	84	0	0	0	1	0	44	84				
RBMY2EP	159125	broad.mit.edu	37	Y	23562838	23562838	+	RNA	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrY:23562838T>G	ENST00000444169.1	-	0	160					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		GCAGCATTCTTAACATCTGCA	0.318																																						ENST00000444169.1																			0																																																			159125							g.chrY:23562838T>G	U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23562838T>G								NR_001574.2						0	160	-									RNA	SNP	ENST00000444169.1	37																																																																																						0.318	RBMY2EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471819.1	NR_001574		36	14	0	0	0	1	0	36	14				
NBPF10	100132406	broad.mit.edu	37	1	145304642	145304642	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:145304642C>T	ENST00000369339.3	+	7	1015	c.762C>T	c.(760-762)caC>caT	p.H254H	NBPF10_ENST00000369338.1_Silent_p.H254H|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.H525H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	525	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGCTGTACACATTATTCCAG	0.418																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1573-1575)caC>caT		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145304642C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.762C>T	1.37:g.145304642C>T						NBPF10_ENST00000369339.2_Silent_p.H254H|NBPF10_ENST00000369338.1_Silent_p.H254H|RP11-458D21.5_ENST00000468030.1_3'UTR	p.H525H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1610	+	all_hematologic(923;0.032)		525					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1575C>T																																																																																					0.418	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		59	607	0	0	0	1	0	59	607				
FLI1	2313	broad.mit.edu	37	11	128680581	128680581	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:128680581G>T	ENST00000527786.2	+	9	1546	c.1057G>T	c.(1057-1059)Ggc>Tgc	p.G353C	FLI1_ENST00000344954.6_Missense_Mutation_p.G320C|FLI1_ENST00000281428.8_Missense_Mutation_p.G287C|FLI1_ENST00000534087.2_Missense_Mutation_p.G320C|FLI1_ENST00000525560.1_Missense_Mutation_p.G160C	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	353					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAAAGTGCACGGCAAAAGATA	0.502			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(958-960)Ggc>Tgc		Fli-1 proto-oncogene, ETS transcription factor							61.0	67.0	65.0					11																	128680581		2178	4292	6470	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680581G>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1057G>T	11.37:g.128680581G>T	ENSP00000433488:p.Gly353Cys					FLI1_ENST00000429175.2_Missense_Mutation_p.G353C|FLI1_ENST00000281428.8_Missense_Mutation_p.G287C|FLI1_ENST00000525560.1_Missense_Mutation_p.G160C|FLI1_ENST00000534087.1_Missense_Mutation_p.G320C	p.G320C			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1346	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	353					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.958G>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833291	0.71258	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.23	5.23	0.72850	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94635	0.7825	10	0.87932	D	0	.	18.9989	0.92824	0.0:0.0:1.0:0.0	.	353;160;287	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	C	160;320;353;320;287	ENSP00000437124:G160C;ENSP00000339627:G320C;ENSP00000399985:G353C;ENSP00000432950:G320C;ENSP00000281428:G287C	ENSP00000281428:G287C	G	+	1	0	FLI1	128185791	1.000000	0.71417	0.989000	0.46669	0.932000	0.56968	9.595000	0.98260	2.719000	0.93026	0.650000	0.86243	GGC		0.502	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		16	38	1	0	8.00594e-06	1	8.67741e-06	16	38				
CRISP3	10321	broad.mit.edu	37	6	49696507	49696507	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:49696507C>A	ENST00000393666.1	-	7	680	c.674G>T	c.(673-675)tGt>tTt	p.C225F	CRISP3_ENST00000371159.4_Missense_Mutation_p.C256F|CRISP3_ENST00000423399.2_Missense_Mutation_p.C135F|CRISP3_ENST00000263045.4_Missense_Mutation_p.C238F|CRISP3_ENST00000433368.2_Missense_Mutation_p.C248F			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	225	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGATGTTTACAGGTTAATGT	0.383																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(742-744)tGt>tTt		cysteine-rich secretory protein 3							170.0	153.0	159.0					6																	49696507		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696507C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.674G>T	6.37:g.49696507C>A	ENSP00000377274:p.Cys225Phe					CRISP3_ENST00000263045.4_Missense_Mutation_p.C238F|CRISP3_ENST00000423399.2_Missense_Mutation_p.C135F|CRISP3_ENST00000393666.1_Missense_Mutation_p.C225F|CRISP3_ENST00000371159.4_Missense_Mutation_p.C256F	p.C248F	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	812	-	Lung NSC(77;0.0161)		225					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.743G>T		.	.	.	.	.	.	.	.	.	.	C	15.27	2.782640	0.49891	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.18502	2.65;2.61;2.69;2.21;2.6	4.41	4.41	0.53225	Cysteine-rich secretory protein (1);	0.000000	0.64402	U	0.000001	T	0.40522	0.1120	M	0.93328	3.405	0.09310	N	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.43669	-0.9377	10	0.87932	D	0	.	12.8195	0.57685	0.0:1.0:0.0:0.0	.	225	P54108	CRIS3_HUMAN	F	238;248;225;135;256	ENSP00000263045:C238F;ENSP00000389026:C248F;ENSP00000377274:C225F;ENSP00000410469:C135F;ENSP00000360201:C256F	ENSP00000263045:C238F	C	-	2	0	CRISP3	49804466	0.979000	0.34478	0.071000	0.20095	0.005000	0.04900	3.969000	0.56816	2.143000	0.66587	0.609000	0.83330	TGT		0.383	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		31	81	1	0	8.58068e-18	1	1.03709e-17	31	81				
TET3	200424	broad.mit.edu	37	2	74274706	74274706	+	Silent	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:74274706T>A	ENST00000409262.3	+	1	1257	c.1257T>A	c.(1255-1257)ccT>ccA	p.P419P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	419					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGAGCCTTCTGCTCCTG	0.612																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1255-1257)ccT>ccA		tet methylcytosine dioxygenase 3							56.0	69.0	64.0					2																	74274706		2107	4218	6325	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274706T>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1257T>A	2.37:g.74274706T>A							p.P419P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1257	+			419					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.1257T>A	CCDS46339.1																																																																																				0.612	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			12	20	0	0	0	1	0	12	20				
OR52E8	390079	broad.mit.edu	37	11	5878869	5878869	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5878869C>G	ENST00000537935.1	-	1	95	c.64G>C	c.(64-66)Ggt>Cgt	p.G22R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGGATACCCAGCAGTAGG	0.448																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(64-66)Ggt>Cgt		olfactory receptor, family 52, subfamily E, member 8							111.0	132.0	125.0					11																	5878869		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878869C>G	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.64G>C	11.37:g.5878869C>G	ENSP00000444054:p.Gly22Arg					TRIM5_ENST00000380027.1_Intron	p.G22R	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	95	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	22					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.64G>C	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814308	0.32053	.	.	ENSG00000183269	ENST00000537935	T	0.00659	5.94	4.87	4.87	0.63330	.	0.000000	0.56097	D	0.000026	T	0.06735	0.0172	H	0.97158	3.95	0.26535	N	0.974194	D	0.58970	0.984	P	0.60473	0.875	T	0.09207	-1.0685	10	0.72032	D	0.01	.	12.9031	0.58137	0.1632:0.8368:0.0:0.0	.	22	Q6IFG1	O52E8_HUMAN	R	22	ENSP00000444054:G22R	ENSP00000444054:G22R	G	-	1	0	OR52E8	5835445	0.792000	0.28813	0.601000	0.28877	0.067000	0.16453	3.157000	0.50716	2.411000	0.81874	0.549000	0.68633	GGT		0.448	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		49	154	0	0	0	1	0	49	154				
CCT8L2	150160	broad.mit.edu	37	22	17072765	17072765	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17072765C>A	ENST00000359963.3	-	1	935	c.676G>T	c.(676-678)Ggg>Tgg	p.G226W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	226					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGAGCTTCCCAGATATTGCT	0.607																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(676-678)Ggg>Tgg		chaperonin containing TCP1, subunit 8 (theta)-like 2							73.0	70.0	71.0					22																	17072765		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072765C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.676G>T	22.37:g.17072765C>A	ENSP00000353048:p.Gly226Trp						p.G226W	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	935	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	226					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.676G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	11.85	1.761641	0.31228	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.78	1.78	0.24846	.	0.254272	0.20258	U	0.095931	T	0.78502	0.4293	L	0.44542	1.39	0.09310	N	1	D	0.63880	0.993	P	0.61275	0.886	T	0.66516	-0.5904	10	0.87932	D	0	-5.6643	7.0003	0.24805	0.0:1.0:0.0:0.0	.	226	Q96SF2	TCPQM_HUMAN	W	226	ENSP00000353048:G226W	ENSP00000353048:G226W	G	-	1	0	CCT8L2	15452765	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.877000	0.28106	0.995000	0.38917	0.379000	0.24179	GGG		0.607	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			30	104	1	0	6.38683e-12	1	7.50341e-12	30	104				
OR5K4	403278	broad.mit.edu	37	3	98072869	98072869	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:98072869C>A	ENST00000354924.2	+	1	172	c.172C>A	c.(172-174)Cca>Aca	p.P58T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTTCTCACACCAATGTACAT	0.463																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(172-174)Cca>Aca		olfactory receptor, family 5, subfamily K, member 4							304.0	297.0	299.0					3																	98072869		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072869C>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.172C>A	3.37:g.98072869C>A	ENSP00000347003:p.Pro58Thr					RP11-325B23.2_ENST00000508616.1_lincRNA	p.P58T	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	172	+			58						Missense_Mutation	SNP	ENST00000354924.2	37	c.172C>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377594	0.61735	.	.	ENSG00000196098	ENST00000354924	T	0.02032	4.49	4.63	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32444	U	0.006094	T	0.18425	0.0442	H	0.97707	4.06	0.37634	D	0.921794	D	0.67145	0.996	D	0.65010	0.931	T	0.29792	-1.0000	10	0.72032	D	0.01	-25.8448	10.9069	0.47086	0.0:0.9067:0.0:0.0933	.	58	A6NMS3	OR5K4_HUMAN	T	58	ENSP00000347003:P58T	ENSP00000347003:P58T	P	+	1	0	OR5K4	99555559	0.982000	0.34865	0.729000	0.30791	0.865000	0.49528	3.227000	0.51262	1.295000	0.44724	0.505000	0.49811	CCA		0.463	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			117	431	1	0	1.19196e-58	1	1.50563e-58	117	431				
PHF21B	112885	broad.mit.edu	37	22	45309885	45309885	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:45309885G>C	ENST00000313237.5	-	5	798	c.648C>G	c.(646-648)ccC>ccG	p.P216P	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	216							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gtgatggggagggaggggtga	0.642																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(646-648)ccC>ccG		PHD finger protein 21B							33.0	33.0	33.0					22																	45309885		2202	4299	6501	SO:0001819	synonymous_variant	112885						zinc ion binding	g.chr22:45309885G>C	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.648C>G	22.37:g.45309885G>C						PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	p.P216P	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	798	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	216					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	c.648C>G	CCDS14061.1																																																																																				0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		31	17	0	0	0	1	0	31	17				
ITGA8	8516	broad.mit.edu	37	10	15760797	15760797	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:15760797G>A	ENST00000378076.3	-	2	664	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	104					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGCACTGCGCAGACCCCTC	0.602																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(310-312)gCg>gTg		integrin, alpha 8							130.0	114.0	119.0					10																	15760797		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760797G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.311C>T	10.37:g.15760797G>A	ENSP00000367316:p.Ala104Val						p.A104V	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			2	664	-			104					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.311C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998724	0.35226	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54675	0.56	4.79	1.72	0.24424	.	0.377447	0.24240	N	0.040272	T	0.33789	0.0875	N	0.20685	0.6	0.21147	N	0.999771	B;B	0.13594	0.008;0.005	B;B	0.09377	0.004;0.002	T	0.18871	-1.0323	10	0.30078	T	0.28	.	10.9515	0.47332	0.2395:0.0:0.7605:0.0	.	104;104	F5H818;P53708	.;ITA8_HUMAN	V	104	ENSP00000367316:A104V	ENSP00000367316:A104V	A	-	2	0	ITGA8	15800803	0.886000	0.30341	0.894000	0.35097	0.993000	0.82548	2.440000	0.44855	0.642000	0.30620	0.561000	0.74099	GCG		0.602	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		4	159	0	0	0	1	0	4	159				
LRRCC1	85444	broad.mit.edu	37	8	86044044	86044044	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:86044044G>T	ENST00000360375.3	+	12	1965	c.1816G>T	c.(1816-1818)Gcc>Tcc	p.A606S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.A586S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTCCAGGATGCCTTAGCTAA	0.353																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1756-1758)Gcc>Tcc		leucine rich repeat and coiled-coil centrosomal protein 1							93.0	85.0	88.0					8																	86044044		1830	4083	5913	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044044G>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1816G>T	8.37:g.86044044G>T	ENSP00000353538:p.Ala606Ser					LRRCC1_ENST00000360375.3_Missense_Mutation_p.A606S	p.A586S			Q9C099	LRCC1_HUMAN			11	2645	+			606					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1756G>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015523	0.93404	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.37235	1.21;1.21	5.64	5.64	0.86602	.	0.000000	0.37906	N	0.001888	T	0.60130	0.2245	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.997;0.998;0.969	T	0.49952	-0.8884	10	0.18710	T	0.47	-7.5788	20.0915	0.97822	0.0:0.0:1.0:0.0	.	513;586;513;606	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	606;586	ENSP00000353538:A606S;ENSP00000394695:A586S	ENSP00000353538:A606S	A	+	1	0	LRRCC1	86231296	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.281000	0.72632	2.834000	0.97654	0.650000	0.86243	GCC		0.353	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		19	45	1	0	1.00905e-13	1	1.1938e-13	19	45				
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CGTTTTACTGCATTAATTACA	0.333																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912208C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912208C>T														0	2371	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.333	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	88	0	0	0	1	0	6	88				
SCLT1	132320	broad.mit.edu	37	4	129867198	129867198	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:129867198G>A	ENST00000281142.5	-	16	1906	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	468					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGCTCTCGTAAGTCTTAG	0.343																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1402-1404)aCg>aTg		sodium channel and clathrin linker 1							104.0	99.0	100.0					4																	129867198		2202	4300	6502	SO:0001583	missense	132320					centrosome		g.chr4:129867198G>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1403C>T	4.37:g.129867198G>A	ENSP00000281142:p.Thr468Met					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	p.T468M	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			16	1906	-			468					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1403C>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025919	0.35701	.	.	ENSG00000151466	ENST00000281142	T	0.34072	1.38	4.53	2.11	0.27256	.	0.387436	0.29009	N	0.013436	T	0.13586	0.0329	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	B	0.37650	0.255	T	0.05225	-1.0898	9	.	.	.	-7.2704	6.2638	0.20915	0.0:0.09:0.1715:0.7384	.	468	Q96NL6	SCLT1_HUMAN	M	468	ENSP00000281142:T468M	.	T	-	2	0	SCLT1	130086648	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	2.819000	0.48049	0.692000	0.31613	-0.271000	0.10264	ACG		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		6	42	0	0	0	1	0	6	42				
KIF21B	23046	broad.mit.edu	37	1	200967613	200967613	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:200967613C>T	ENST00000422435.2	-	14	2292	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	KIF21B_ENST00000332129.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R659Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	659					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGTCTGCAACCGCCGCTGGCT	0.572																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1975-1977)cGg>cAg		kinesin family member 21B							96.0	93.0	94.0					1																	200967613		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967613C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1976G>A	1.37:g.200967613C>T	ENSP00000411831:p.Arg659Gln					KIF21B_ENST00000360529.5_Missense_Mutation_p.R659Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R659Q	p.R659Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			14	2292	-			659					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1976G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803141	0.96960	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.80508	2.5	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.79108	0.978;0.992;0.978;0.99	T	0.55354	-0.8154	10	0.62326	D	0.03	.	19.0218	0.92919	0.0:1.0:0.0:0.0	.	659;659;659;659	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	659	ENSP00000328494:R659Q;ENSP00000353724:R659Q;ENSP00000433808:R659Q;ENSP00000411831:R659Q	ENSP00000328494:R659Q	R	-	2	0	KIF21B	199234236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.478000	0.83669	0.650000	0.86243	CGG		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		41	113	0	0	0	1	0	41	113				
MAP3K15	389840	broad.mit.edu	37	X	19443725	19443725	+	Missense_Mutation	SNP	C	C	T	rs200274989		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:19443725C>T	ENST00000338883.4	-	9	1362	c.1363G>A	c.(1363-1365)Gtc>Atc	p.V455I	MAP3K15_ENST00000469203.2_Missense_Mutation_p.V287I|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	455							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCATGCTGACGCTGAAGAAC	0.478													C|||	3	0.000794702	0.0	0.0	3775	,	,		13312	0.001		0.0	False		,,,				2504	0.002					ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1363-1365)Gtc>Atc		mitogen-activated protein kinase kinase kinase 15			ILE/VAL	1,2626		0,1,0,1058,509	84.0	66.0	71.0		1363	4.1	0.4	X		71	2,5496		0,1,1,1915,1665	yes	missense	MAP3K15	NM_001001671.3	29	0,2,1,2973,2174	TT,TC,T,CC,C		0.0364,0.0381,0.0369		455/1314	19443725	3,8122	1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19443725C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1363G>A	X.37:g.19443725C>T	ENSP00000345629:p.Val455Ile					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V287I	p.V455I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			9	1362	-	Hepatocellular(33;0.183)		455					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1363G>A		.	.	.	.	.	.	.	.	.	.	C	6.817	0.519882	0.13005	3.81E-4	3.64E-4	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.09350	2.99;2.99	5.84	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	N	0.14661	0.345	0.46396	D	0.999021	.	.	.	.	.	.	T	0.18618	-1.0331	8	0.07030	T	0.85	.	11.91	0.52733	0.0:0.8561:0.0:0.1439	.	.	.	.	I	455;287	ENSP00000345629:V455I;ENSP00000428356:V287I	ENSP00000345629:V455I	V	-	1	0	MAP3K15	19353646	0.992000	0.36948	0.427000	0.26684	0.174000	0.22865	3.059000	0.49947	0.722000	0.32252	0.597000	0.82753	GTC		0.478	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		13	6	0	0	0	1	0	13	6				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	69	1	0	1.26612e-14	1	1.51934e-14	34	69				
MAP7D2	256714	broad.mit.edu	37	X	20062588	20062588	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:20062588T>A	ENST00000379651.3	-	6	668	c.650A>T	c.(649-651)aAg>aTg	p.K217M	MAP7D2_ENST00000452324.3_Missense_Mutation_p.K165M|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K172M|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K258M|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K102M	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	217					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTGAAGACTTGTAAGAAGG	0.463																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(649-651)aAg>aTg		MAP7 domain containing 2							221.0	196.0	204.0					X																	20062588		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20062588T>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.650A>T	X.37:g.20062588T>A	ENSP00000368972:p.Lys217Met					MAP7D2_ENST00000379643.5_Missense_Mutation_p.K258M|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K102M|MAP7D2_ENST00000452324.3_Missense_Mutation_p.K165M|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K172M	p.K217M	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			6	668	-			217					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.650A>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115481	0.37339	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.15372	3.51;2.43;3.51;3.18;3.08	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.70275	2.135	0.49389	D	0.999782	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.997;0.999	T	0.28713	-1.0035	10	0.54805	T	0.06	-22.0735	14.0488	0.64722	0.0:0.0:0.0:1.0	.	172;165;258;217;102	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	M	217;258;102;172;165	ENSP00000368972:K217M;ENSP00000368964:K258M;ENSP00000440691:K102M;ENSP00000388239:K172M;ENSP00000413301:K165M	ENSP00000368964:K258M	K	-	2	0	MAP7D2	19972509	1.000000	0.71417	0.966000	0.40874	0.296000	0.27459	3.795000	0.55499	1.693000	0.51124	0.486000	0.48141	AAG		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		64	37	0	0	0	1	0	64	37				
OR4A15	81328	broad.mit.edu	37	11	55135920	55135920	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:55135920A>T	ENST00000314706.3	+	1	561	c.561A>T	c.(559-561)caA>caT	p.Q187H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CATTGGTTCAATTTCTCTTTA	0.423																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(559-561)caA>caT		olfactory receptor, family 4, subfamily A, member 15							163.0	149.0	153.0					11																	55135920		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135920A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.561A>T	11.37:g.55135920A>T	ENSP00000325065:p.Gln187His						p.Q187H	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	561	+			187					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.561A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.616224	0.28801	.	.	ENSG00000181958	ENST00000314706	T	0.00019	9.06	3.48	-6.96	0.01622	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000207	T	0.00073	0.0002	N	0.17674	0.51	0.09310	N	1	B	0.27951	0.195	B	0.41036	0.346	T	0.48896	-0.8994	10	0.72032	D	0.01	.	3.5164	0.07726	0.2789:0.1246:0.473:0.1235	.	187	Q8NGL6	O4A15_HUMAN	H	187	ENSP00000325065:Q187H	ENSP00000325065:Q187H	Q	+	3	2	OR4A15	54892496	0.000000	0.05858	0.000000	0.03702	0.648000	0.38561	-2.391000	0.01057	-1.783000	0.01274	0.403000	0.27427	CAA		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		65	148	0	0	0	1	0	65	148				
TEX11	56159	broad.mit.edu	37	X	69811633	69811633	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:69811633C>A	ENST00000395889.2	-	26	2308	c.2153G>T	c.(2152-2154)tGc>tTc	p.C718F	TEX11_ENST00000374333.2_Missense_Mutation_p.C703F|TEX11_ENST00000344304.3_Missense_Mutation_p.C718F|TEX11_ENST00000374320.2_Missense_Mutation_p.C393F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	718					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GATGTCATTGCATGTCTGGAT	0.383																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2152-2154)tGc>tTc		testis expressed 11							158.0	109.0	126.0					X																	69811633		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69811633C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2153G>T	X.37:g.69811633C>A	ENSP00000379226:p.Cys718Phe					TEX11_ENST00000374320.2_Missense_Mutation_p.C393F|TEX11_ENST00000374333.2_Missense_Mutation_p.C703F|TEX11_ENST00000344304.3_Missense_Mutation_p.C718F	p.C718F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			26	2308	-	Renal(35;0.156)		718					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2153G>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664745	0.29604	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.52057	1.25;1.27;0.68;1.27	3.71	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.71581	2.175	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.49341	-0.8950	9	.	.	.	-5.9492	6.4491	0.21894	0.0:0.8646:0.0:0.1354	.	703;718	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	F	703;718;393;718	ENSP00000363453:C703F;ENSP00000379226:C718F;ENSP00000363440:C393F;ENSP00000340995:C718F	.	C	-	2	0	TEX11	69728358	0.984000	0.35163	0.091000	0.20842	0.005000	0.04900	2.820000	0.48057	0.941000	0.37499	-0.215000	0.12644	TGC		0.383	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			16	13	1	0	2.94398e-08	1	3.31939e-08	16	13				
KIF14	9928	broad.mit.edu	37	1	200534364	200534364	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:200534364C>T	ENST00000367350.4	-	25	4342	c.3904G>A	c.(3904-3906)Gca>Aca	p.A1302T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1302	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTGGATTGCTCGATCAGAA	0.338																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3904-3906)Gca>Aca		kinesin family member 14							91.0	88.0	89.0					1																	200534364		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200534364C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3904G>A	1.37:g.200534364C>T	ENSP00000356319:p.Ala1302Thr						p.A1302T	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			25	4342	-			1302			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3904G>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247458	0.59103	.	.	ENSG00000118193	ENST00000367350	T	0.73789	-0.78	4.88	4.88	0.63580	.	0.476027	0.20426	N	0.092568	T	0.72236	0.3435	L	0.57536	1.79	0.33222	D	0.554816	P	0.43094	0.799	B	0.38562	0.276	T	0.81265	-0.1011	10	0.46703	T	0.11	.	18.0269	0.89272	0.0:1.0:0.0:0.0	.	1302	Q15058	KIF14_HUMAN	T	1302	ENSP00000356319:A1302T	ENSP00000356319:A1302T	A	-	1	0	KIF14	198800987	0.991000	0.36638	0.771000	0.31576	0.537000	0.34900	2.809000	0.47971	2.262000	0.75019	0.591000	0.81541	GCA		0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		4	153	0	0	0	1	0	4	153				
KEAP1	9817	broad.mit.edu	37	19	10610310	10610310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10610310C>A	ENST00000171111.5	-	2	947	c.400G>T	c.(400-402)Gag>Tag	p.E134*	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E134*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	134	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATGAGGCGCTCCATGACCTTG	0.587																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(400-402)Gag>Tag		kelch-like ECH-associated protein 1							138.0	111.0	121.0					19																	10610310		2203	4300	6503	SO:0001587	stop_gained	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610310C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.400G>T	19.37:g.10610310C>A	ENSP00000171111:p.Glu134*					KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E134*	p.E134*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	947	-			134			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Nonsense_Mutation	SNP	ENST00000171111.5	37	c.400G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	37	6.613923	0.97705	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	.	.	.	4.68	4.68	0.58851	.	0.270585	0.39475	N	0.001349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	11.0692	0.47993	0.0:0.8116:0.1884:0.0	.	.	.	.	X	134	.	ENSP00000171111:E134X	E	-	1	0	KEAP1	10471310	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.753000	0.62183	2.162000	0.67917	0.462000	0.41574	GAG		0.587	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	41	1	0	0.010729	1	0.0109241	12	41				
RYR3	6263	broad.mit.edu	37	15	33990140	33990140	+	Silent	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr15:33990140C>G	ENST00000389232.4	+	40	6262	c.6192C>G	c.(6190-6192)ggC>ggG	p.G2064G	RYR3_ENST00000415757.3_Silent_p.G2064G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2064	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTCCTGGGCATGCACGAGA	0.468																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6190-6192)ggC>ggG		ryanodine receptor 3							185.0	177.0	180.0					15																	33990140		2071	4238	6309	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990140C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6192C>G	15.37:g.33990140C>G						RYR3_ENST00000415757.3_Silent_p.G2064G	p.G2064G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	40	6262	+		all_lung(180;7.18e-09)	2064			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6192C>G	CCDS45210.1																																																																																				0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	87	0	0	0	1	0	29	87				
WT1	7490	broad.mit.edu	37	11	32456486	32456486	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:32456486G>T	ENST00000332351.3	-	1	690	c.406C>A	c.(406-408)Cct>Act	p.P136T	WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000478367.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.P136T|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	68					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGGAGTGAggcggcggcggc	0.736			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	0				NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(406-408)Cct>Act		Wilms tumor 1							4.0	6.0	6.0					11																	32456486		1849	3812	5661	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32456486G>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.406C>A	11.37:g.32456486G>T	ENSP00000331327:p.Pro136Thr					WT1_ENST00000448076.3_Missense_Mutation_p.P136T	p.P136T	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		1	690	-	Breast(20;0.247)		68					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000332351.3	37	c.406C>A	CCDS7878.2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424498	0.43020	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.84660	-1.88;-1.88;-1.88	3.01	3.01	0.34805	Wilm&apos (1);s tumour protein, N-terminal (1);	0.084633	0.47852	U	0.000207	T	0.79173	0.4401	L	0.43923	1.385	0.80722	D	1	P;P;P	0.45715	0.851;0.584;0.865	B;B;B	0.40825	0.341;0.338;0.341	T	0.80103	-0.1522	10	0.56958	D	0.05	.	11.2034	0.48754	0.0:0.0:1.0:0.0	.	141;68;141	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	T	136	ENSP00000331327:P136T;ENSP00000415516:P136T;ENSP00000413452:P136T	ENSP00000331327:P136T	P	-	1	0	WT1	32413062	1.000000	0.71417	0.994000	0.49952	0.301000	0.27625	0.359000	0.20233	1.359000	0.45940	0.313000	0.20887	CCT		0.736	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		3	8	1	0	0.115264	1	0.115954	3	8				
PDE4DIP	9659	broad.mit.edu	37	1	145021132	145021132	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:145021132G>T	ENST00000530740.1	-	2	307	c.269C>A	c.(268-270)cCc>cAc	p.P90H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P90H|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.P19H|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P90H|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P19H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P90H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCGTTCTGGGTACCATCTC	0.438			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - Missense(1)	p.P90H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(268-270)cCc>cAc		phosphodiesterase 4D interacting protein							227.0	204.0	211.0					1																	145021132		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145021132G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.269C>A	1.37:g.145021132G>T	ENSP00000435654:p.Pro90His					PDE4DIP_ENST00000478649.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P19H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P90H|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P90H	p.P90H			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	307	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.269C>A		.	.	.	.	.	.	.	.	.	.	G	19.15	3.772663	0.69992	.	.	ENSG00000178104	ENST00000313382;ENST00000530740;ENST00000369359;ENST00000532801;ENST00000530078;ENST00000369348;ENST00000531369;ENST00000493130;ENST00000478649	T;T;T;T;T;T	0.60920	3.79;3.69;3.67;0.15;2.3;0.99	4.65	4.65	0.58169	.	.	.	.	.	T	0.56062	0.1960	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.991;0.997;1.0	P;D;D	0.85130	0.823;0.99;0.997	T	0.60172	-0.7315	9	0.54805	T	0.06	.	12.8884	0.58057	0.0:0.0:1.0:0.0	.	19;90;19	Q5VU43-3;E9PJ64;E9PQH9	.;.;.	H	19;90;90;19;19;90;20;19;19	ENSP00000327209:P19H;ENSP00000435654:P90H;ENSP00000358366:P90H;ENSP00000436751:P19H;ENSP00000358354:P90H;ENSP00000435616:P20H	ENSP00000327209:P19H	P	-	2	0	PDE4DIP	143732489	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.438000	0.59961	2.416000	0.81992	0.655000	0.94253	CCC		0.438	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		8	185	1	0	2.74318e-10	1	3.20038e-10	8	185				
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		63	Whole gene deletion(37)|Deletion - Frameshift(10)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(15)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|bone(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM004336	PTEN	M		c.(406-408)Tgt>Cgt		phosphatase and tensin homolog							125.0	118.0	121.0					10																	89692922		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692922T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.406T>C	10.37:g.89692922T>C	ENSP00000361021:p.Cys136Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C136R	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1763	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.406T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391056	0.82902	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98283	1.0509	9	.	.	.	-4.1412	15.1019	0.72284	0.0:0.0:0.0:1.0	.	136	P60484	PTEN_HUMAN	R	136	ENSP00000361021:C136R	.	C	+	1	0	PTEN	89682902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TGT		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		44	100	0	0	0	1	0	44	100				
DCHS1	8642	broad.mit.edu	37	11	6653330	6653330	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:6653330C>A	ENST00000299441.3	-	6	3824	c.3413G>T	c.(3412-3414)gGa>gTa	p.G1138V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCAGACGTCCATTGGGTCC	0.602																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3412-3414)gGa>gTa		dachsous cadherin-related 1							84.0	82.0	82.0					11																	6653330		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653330C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3413G>T	11.37:g.6653330C>A	ENSP00000299441:p.Gly1138Val					RP11-732A19.6_ENST00000526633.1_RNA	p.G1138V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3824	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1138			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3413G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179709	0.57800	.	.	ENSG00000166341	ENST00000299441	T	0.06218	3.33	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.000000	0.45606	D	0.000344	T	0.33556	0.0867	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40534	-0.9558	10	0.87932	D	0	.	17.0688	0.86567	0.0:1.0:0.0:0.0	.	1138	Q96JQ0	PCD16_HUMAN	V	1138	ENSP00000299441:G1138V	ENSP00000299441:G1138V	G	-	2	0	DCHS1	6609906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.768000	0.47645	2.584000	0.87258	0.561000	0.74099	GGA		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	20	1	0	3.09899e-07	1	3.44788e-07	8	20				
RARG	5916	broad.mit.edu	37	12	53608237	53608237	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:53608237T>C	ENST00000425354.2	-	6	1116	c.629A>G	c.(628-630)tAt>tGt	p.Y210C	RARG_ENST00000338561.5_Missense_Mutation_p.Y199C|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.Y210C|RARG_ENST00000327550.3_Missense_Mutation_p.Y138C|RARG_ENST00000543726.1_Missense_Mutation_p.Y188C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	210	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACCGTGGTATACTTGCCCAG	0.572																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(628-630)tAt>tGt		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						130.0	117.0	122.0					12																	53608237		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53608237T>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.629A>G	12.37:g.53608237T>C	ENSP00000388510:p.Tyr210Cys					RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.Y210C|RARG_ENST00000338561.5_Missense_Mutation_p.Y199C|RARG_ENST00000327550.3_Missense_Mutation_p.Y138C|RARG_ENST00000543726.1_Missense_Mutation_p.Y188C	p.Y210C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			6	1116	-			210			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.629A>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725117	0.68959	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	4.84	4.84	0.62591	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.977;0.996;0.998;0.922	T	0.67260	-0.5715	10	0.56958	D	0.05	.	13.8397	0.63430	0.0:0.0:0.0:1.0	.	247;188;210;199	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	C	210;210;138;199;188;247	ENSP00000388510:Y210C;ENSP00000377947:Y210C;ENSP00000332695:Y138C;ENSP00000343698:Y199C;ENSP00000444335:Y188C	ENSP00000332695:Y138C	Y	-	2	0	RARG	51894504	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	6.062000	0.71155	2.171000	0.68590	0.460000	0.39030	TAT		0.572	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		25	51	0	0	0	1	0	25	51				
POLK	51426	broad.mit.edu	37	5	74872759	74872759	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:74872759G>A	ENST00000241436.4	+	6	866		c.e6+1		POLK_ENST00000504026.1_Splice_Site|POLK_ENST00000352007.5_Splice_Site|POLK_ENST00000380481.3_Splice_Site|POLK_ENST00000508526.1_Splice_Site|POLK_ENST00000506928.1_Splice_Site|POLK_ENST00000515295.1_Splice_Site	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAGAAAATGGTAAGCAACTT	0.328								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.e6+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							46.0	46.0	46.0					5																	74872759		2203	4299	6502	SO:0001630	splice_region_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74872759G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.694+1G>A	5.37:g.74872759G>A						POLK_ENST00000504026.1_Splice_Site|POLK_ENST00000508526.1_Splice_Site|POLK_ENST00000352007.5_Splice_Site|POLK_ENST00000506928.1_Splice_Site|POLK_ENST00000515295.1_Splice_Site|POLK_ENST00000380481.3_Splice_Site		NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	6	866	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)						B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Splice_Site	SNP	ENST00000241436.4	37		CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752587	0.69533	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.035	0.89298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLK	74908515	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.950000	0.63603	2.695000	0.91970	0.563000	0.77884	.		0.328	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	Intron	27	24	0	0	0	1	0	27	24				
CAPN6	827	broad.mit.edu	37	X	110491851	110491851	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:110491851C>G	ENST00000324068.1	-	10	1597	c.1430G>C	c.(1429-1431)gGt>gCt	p.G477A	CAPN6_ENST00000541758.1_Missense_Mutation_p.G222A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	477	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTGGTGCGACCATGCTGGAA	0.512																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1429-1431)gGt>gCt		calpain 6							93.0	78.0	83.0					X																	110491851		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491851C>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1430G>C	X.37:g.110491851C>G	ENSP00000317214:p.Gly477Ala					CAPN6_ENST00000541758.1_Missense_Mutation_p.G222A	p.G477A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			10	1597	-			477			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1430G>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931215	0.52866	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90069	-2.61;-2.61	5.97	5.97	0.96955	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	L	0.45137	1.4	0.42909	D	0.99425	B	0.15473	0.013	B	0.29862	0.108	T	0.82402	-0.0475	10	0.52906	T	0.07	.	12.0062	0.53261	0.0:0.9158:0.0:0.0842	.	477	Q9Y6Q1	CAN6_HUMAN	A	477;222	ENSP00000317214:G477A;ENSP00000441736:G222A	ENSP00000317214:G477A	G	-	2	0	CAPN6	110378507	0.056000	0.20664	1.000000	0.80357	0.991000	0.79684	1.928000	0.40104	2.517000	0.84864	0.600000	0.82982	GGT		0.512	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			15	11	0	0	0	1	0	15	11				
THBS3	7059	broad.mit.edu	37	1	155165687	155165687	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:155165687G>T	ENST00000368378.3	-	23	2836	c.2816C>A	c.(2815-2817)aCa>aAa	p.T939K	RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.T336K|MIR92B_ENST00000607575.1_RNA|MUC1_ENST00000338684.5_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|MUC1_ENST00000368395.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.T819K|THBS3_ENST00000541990.1_Missense_Mutation_p.T468K	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	939	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCAGGCACTGTGTCTGAAGA	0.512																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2815-2817)aCa>aAa		thrombospondin 3							161.0	156.0	158.0					1																	155165687		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155165687G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2816C>A	1.37:g.155165687G>T	ENSP00000357362:p.Thr939Lys					THBS3_ENST00000541990.1_Missense_Mutation_p.T468K|THBS3_ENST00000541576.1_Missense_Mutation_p.T336K|THBS3_ENST00000457183.2_Missense_Mutation_p.T819K|THBS3_ENST00000487250.1_5'UTR	p.T939K	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		23	2836	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		939			TSP C-terminal.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2816C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091921	0.55968	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.91385	0.7282	L	0.58669	1.825	0.80722	D	1	P;D;D;D	0.55172	0.903;0.97;0.97;0.97	P;B;B;B	0.44518	0.452;0.437;0.437;0.437	D	0.92305	0.5853	10	0.62326	D	0.03	-9.0627	14.364	0.66792	0.0:0.0:1.0:0.0	.	819;939;939;939	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	K	939;336;819;468	ENSP00000357362:T939K;ENSP00000444792:T336K;ENSP00000392207:T819K;ENSP00000437353:T468K	ENSP00000357362:T939K	T	-	2	0	THBS3	153432311	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.924000	0.63418	2.343000	0.79666	0.591000	0.81541	ACA		0.512	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		43	146	1	0	6.68952e-21	1	8.14376e-21	43	146				
GRIN1	2902	broad.mit.edu	37	9	140055590	140055590	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:140055590A>T	ENST00000371561.3	+	9	2377	c.1280A>T	c.(1279-1281)aAc>aTc	p.N427I	GRIN1_ENST00000371560.3_Missense_Mutation_p.N448I|GRIN1_ENST00000350902.5_Missense_Mutation_p.N427I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.N448I|GRIN1_ENST00000315048.3_Missense_Mutation_p.N427I|GRIN1_ENST00000371555.4_Missense_Mutation_p.N448I|GRIN1_ENST00000371546.4_Missense_Mutation_p.N448I|GRIN1_ENST00000371550.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371559.4_Missense_Mutation_p.N427I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	427					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCACAGTCAACGGCGACCCA	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1279-1281)aAc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						98.0	76.0	84.0					9																	140055590		2200	4298	6498	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140055590A>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1280A>T	9.37:g.140055590A>T	ENSP00000360616:p.Asn427Ile					GRIN1_ENST00000350902.5_Missense_Mutation_p.N427I|GRIN1_ENST00000371559.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371555.4_Missense_Mutation_p.N448I|GRIN1_ENST00000371546.4_Missense_Mutation_p.N448I|GRIN1_ENST00000315048.3_Missense_Mutation_p.N427I|GRIN1_ENST00000371550.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371553.3_Missense_Mutation_p.N448I|GRIN1_ENST00000371560.3_Missense_Mutation_p.N448I|GRIN1_ENST00000471122.1_3'UTR	p.N427I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	9	2377	+	all_cancers(76;0.0926)		427					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.1280A>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	-	17.14	3.314401	0.60524	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	3.95	3.95	0.45737	.	0.000000	0.85682	U	0.000000	T	0.55593	0.1930	L	0.36672	1.1	0.80722	D	1	B;B;B;P;B;B	0.52577	0.111;0.012;0.277;0.954;0.181;0.182	B;B;B;P;B;B	0.56563	0.079;0.039;0.164;0.801;0.124;0.063	T	0.58132	-0.7690	10	0.59425	D	0.04	.	11.6541	0.51306	1.0:0.0:0.0:0.0	.	448;448;427;427;427;427	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	I	427;427;427;427;448;448;448;427;448	ENSP00000360616:N427I;ENSP00000316696:N427I;ENSP00000316915:N427I;ENSP00000360605:N427I;ENSP00000360601:N448I;ENSP00000360610:N448I;ENSP00000360608:N448I;ENSP00000360614:N427I;ENSP00000360615:N448I	ENSP00000316696:N427I	N	+	2	0	GRIN1	139175411	1.000000	0.71417	0.927000	0.36925	0.391000	0.30476	6.426000	0.73374	1.421000	0.47157	0.248000	0.18094	AAC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		21	29	0	0	0	1	0	21	29				
KCNA6	3742	broad.mit.edu	37	12	4920787	4920787	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:4920787C>T	ENST00000280684.3	+	1	2446	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	KCNA6_ENST00000433855.1_Missense_Mutation_p.T527M|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	527					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AGAATGCTCACGGAGGTCTGA	0.557										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1579-1581)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 6							48.0	53.0	51.0					12																	4920787		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920787C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1580C>T	12.37:g.4920787C>T	ENSP00000280684:p.Thr527Met	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.T527M	p.T527M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2446	+			527						Missense_Mutation	SNP	ENST00000280684.3	37	c.1580C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267301	0.59540	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97731	-4.51;-4.51	4.97	4.97	0.65823	.	0.452778	0.21607	N	0.071842	D	0.97210	0.9088	L	0.58101	1.795	0.58432	D	0.999998	D	0.63046	0.992	P	0.48873	0.593	D	0.97922	1.0315	10	0.87932	D	0	.	17.4013	0.87460	0.0:1.0:0.0:0.0	.	527	P17658	KCNA6_HUMAN	M	527	ENSP00000408321:T527M;ENSP00000280684:T527M	ENSP00000280684:T527M	T	+	2	0	KCNA6	4791048	1.000000	0.71417	0.991000	0.47740	0.558000	0.35554	6.848000	0.75409	2.578000	0.87016	0.655000	0.94253	ACG		0.557	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		63	81	0	0	0	1	0	63	81				
ARMC8	25852	broad.mit.edu	37	3	137964058	137964058	+	Intron	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:137964058G>T	ENST00000469044.1	+	12	1405				ARMC8_ENST00000481646.1_Intron|ARMC8_ENST00000489213.1_Silent_p.L347L|ARMC8_ENST00000358441.2_Silent_p.L375L|ARMC8_ENST00000470821.1_Silent_p.L389L|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000471453.1_Silent_p.L375L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCCCAGTCCTGACAGCCAGCA	0.507																																						ENST00000358441.2																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1123-1125)ctG>ctT		armadillo repeat containing 8							48.0	47.0	47.0					3																	137964058		2203	4300	6503	SO:0001627	intron_variant	25852						binding	g.chr3:137964058G>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1134+33G>T	3.37:g.137964058G>T						ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000489213.1_Silent_p.L347L|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000481646.1_Intron|ARMC8_ENST00000471453.1_Silent_p.L375L|ARMC8_ENST00000470821.1_Silent_p.L389L|ARMC8_ENST00000469044.1_Intron|ARMC8_ENST00000538260.1_Intron	p.L375L	NM_014154.3|NM_213654.2	NP_054873.2|NP_998819.1	Q8IUR7	ARMC8_HUMAN			13	1510	+			0					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.1125G>T		.	.	.	.	.	.	.	.	.	.	G	5.524	0.281581	0.10458	.	.	ENSG00000114098	ENST00000469860	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7031	0.85364	0.0:0.0:1.0:0.0	.	.	.	.	L	103	.	.	X	+	2	2	ARMC8	139446748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.499000	0.66937	2.522000	0.85027	0.650000	0.86243	TGA		0.507	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		23	63	1	0	6.44725e-10	1	7.41876e-10	23	63				
GAB4	128954	broad.mit.edu	37	22	17469020	17469020	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17469020G>C	ENST00000400588.1	-	3	623	c.516C>G	c.(514-516)ctC>ctG	p.L172L	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	172										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGAAGAGCAGAGGCCGTGAC	0.572																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(514-516)ctC>ctG		GRB2-associated binding protein family, member 4							46.0	59.0	55.0					22																	17469020		2135	4264	6399	SO:0001819	synonymous_variant	128954							g.chr22:17469020G>C	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.516C>G	22.37:g.17469020G>C						GAB4_ENST00000523144.1_Intron	p.L172L	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			3	623	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	172						Silent	SNP	ENST00000400588.1	37	c.516C>G	CCDS42976.1																																																																																				0.572	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		5	12	0	0	0	1	0	5	12				
CNTNAP5	129684	broad.mit.edu	37	2	125530440	125530440	+	Silent	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:125530440T>A	ENST00000431078.1	+	17	2959	c.2595T>A	c.(2593-2595)tcT>tcA	p.S865S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	865	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGTCCAGTCTCCTTCTCTTC	0.527																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2593-2595)tcT>tcA		contactin associated protein-like 5							184.0	172.0	176.0					2																	125530440		1945	4141	6086	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530440T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2595T>A	2.37:g.125530440T>A							p.S865S	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2959	+			865			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2595T>A	CCDS46401.1																																																																																				0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			54	120	0	0	0	1	0	54	120				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	84	0	0	0	1	0	6	84				
DHX37	57647	broad.mit.edu	37	12	125438655	125438655	+	Silent	SNP	G	G	A	rs200490767		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:125438655G>A	ENST00000308736.2	-	19	2654	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L	DHX37_ENST00000544745.1_Silent_p.L639L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	852							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L852L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGAGGTCGCCGAGCTTCAGAG	0.672													G|||	0	0.0	0.0	0.0	5008	,	,		15092	0.0		0.0	False		,,,				2504	0.0					ENST00000308736.2																			1	Substitution - coding silent(1)	p.L852L(1)	prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2554-2556)ctC>ctT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							39.0	48.0	45.0					12																	125438655		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125438655G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2556C>T	12.37:g.125438655G>A						DHX37_ENST00000544745.1_Silent_p.L639L	p.L852L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	19	2654	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		852					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2556C>T	CCDS9261.1																																																																																				0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		19	22	0	0	0	1	0	19	22				
CLMN	79789	broad.mit.edu	37	14	95670747	95670747	+	Silent	SNP	G	G	A	rs116066710	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:95670747G>A	ENST00000298912.4	-	9	1052	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTTCTTTGATGCGAACAAAAG	0.378																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(937-939)cgC>cgT		calmin (calponin-like, transmembrane)							92.0	98.0	96.0					14																	95670747		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95670747G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.939C>T	14.37:g.95670747G>A							p.R313R	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1052	-			313					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.939C>T	CCDS9933.1																																																																																				0.378	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			28	89	0	0	0	1	0	28	89				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	18	0	0	0	1	0	5	18				
PRDM14	63978	broad.mit.edu	37	8	70970893	70970893	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:70970893C>G	ENST00000276594.2	-	6	1569	c.1368G>C	c.(1366-1368)gaG>gaC	p.E456D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	456					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGTGCTTCTCATGAACAT	0.527																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1368)gaG>gaC		PR domain containing 14							125.0	110.0	115.0					8																	70970893		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70970893C>G	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1368G>C	8.37:g.70970893C>G	ENSP00000276594:p.Glu456Asp						p.E456D	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		6	1569	-	Breast(64;0.193)		456					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1368G>C	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703797	0.68501	.	.	ENSG00000147596	ENST00000276594	T	0.28255	1.62	5.58	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	N	0.20401	0.57	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.16305	-1.0407	10	0.49607	T	0.09	-36.7506	12.9003	0.58121	0.0:0.8674:0.0:0.1326	.	456	Q9GZV8	PRD14_HUMAN	D	456	ENSP00000276594:E456D	ENSP00000276594:E456D	E	-	3	2	PRDM14	71133447	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.391000	0.34475	2.626000	0.88956	0.655000	0.94253	GAG		0.527	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			25	82	0	0	0	1	0	25	82				
SGSH	6448	broad.mit.edu	37	17	78184602	78184602	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:78184602G>A	ENST00000326317.6	-	8	1244	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	SGSH_ENST00000534910.1_Silent_p.L183L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	386			L -> R (in MPS3A). {ECO:0000269|PubMed:9744479}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTTGTGCACGAGGCGGAAGT	0.627																																						ENST00000326317.6																			1	Substitution - coding silent(1)	p.L386L(1)	lung(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1156-1158)ctC>ctT		N-sulfoglucosamine sulfohydrolase							191.0	169.0	176.0					17																	78184602		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184602G>A	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1158C>T	17.37:g.78184602G>A						SGSH_ENST00000534910.1_Silent_p.L183L	p.L386L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1244	-	all_neural(118;0.0952)		386		L -> R (in MPS3A).			A8K5E2	Silent	SNP	ENST00000326317.6	37	c.1158C>T	CCDS11770.1																																																																																				0.627	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		36	70	0	0	0	1	0	36	70				
FCER1A	2205	broad.mit.edu	37	1	159276016	159276016	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:159276016C>T	ENST00000368115.1	+	5	669	c.570C>T	c.(568-570)ctC>ctT	p.L190L	FCER1A_ENST00000368114.1_Silent_p.L157L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	190	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.L190L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTGAGCCCCTCAACATTACTG	0.463																																						ENST00000368115.1																			1	Substitution - coding silent(1)	p.L190L(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(568-570)ctC>ctT		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						93.0	82.0	85.0					1																	159276016		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159276016C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.570C>T	1.37:g.159276016C>T						FCER1A_ENST00000368114.1_Silent_p.L157L	p.L190L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	669	+	all_hematologic(112;0.0429)		190			Ig-like 2.			Silent	SNP	ENST00000368115.1	37	c.570C>T	CCDS1184.1																																																																																				0.463	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	43	0	0	0	1	0	22	43				
ZNF329	79673	broad.mit.edu	37	19	58639245	58639245	+	Silent	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:58639245T>C	ENST00000598312.1	-	4	1859	c.1626A>G	c.(1624-1626)taA>taG	p.*542*	ZNF329_ENST00000358067.4_Silent_p.*542*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCCCCAACCATTATGTTTCCA	0.493																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1624-1626)taA>taG		zinc finger protein 329							148.0	123.0	131.0					19																	58639245		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639245T>C	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1626A>G	19.37:g.58639245T>C						ZNF329_ENST00000358067.4_Silent_p.*542*	p.*542*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1859	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	0					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1626A>G	CCDS12972.1																																																																																				0.493	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		57	109	0	0	0	1	0	57	109				
SREBF2	6721	broad.mit.edu	37	22	42264705	42264705	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:42264705G>A	ENST00000361204.4	+	3	795	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	210	Gln-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGGCCCAGCGGGTGCTGACA	0.617																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(628-630)cGg>cAg		sterol regulatory element binding transcription factor 2							61.0	46.0	51.0					22																	42264705		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42264705G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.629G>A	22.37:g.42264705G>A	ENSP00000354476:p.Arg210Gln						p.R210Q	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			3	795	+			210			Gln-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.629G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996766	0.74818	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.51574	0.7	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	N	0.12961	0.28	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.33033	-0.9884	10	0.06757	T	0.87	-39.6984	19.8584	0.96775	0.0:0.0:1.0:0.0	.	210	Q12772	SRBP2_HUMAN	Q	210	ENSP00000354476:R210Q	ENSP00000354476:R210Q	R	+	2	0	SREBF2	40594651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.578000	0.90777	2.790000	0.95986	0.655000	0.94253	CGG		0.617	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		46	21	0	0	0	1	0	46	21				
EREG	2069	broad.mit.edu	37	4	75248411	75248411	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:75248411G>A	ENST00000244869.2	+	4	494	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	110					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CTTTTTAACCGTCCACCAACC	0.373																																						ENST00000244869.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(328-330)Gtc>Atc		epiregulin							172.0	162.0	165.0					4																	75248411		2203	4300	6503	SO:0001583	missense	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75248411G>A	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.328G>A	4.37:g.75248411G>A	ENSP00000244869:p.Val110Ile					EREG_ENST00000503689.1_3'UTR	p.V110I	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	Lung(101;0.196)		4	494	+			110					B2RC66|Q6FH69	Missense_Mutation	SNP	ENST00000244869.2	37	c.328G>A	CCDS3564.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149540	0.78001	.	.	ENSG00000124882	ENST00000244869	T	0.13538	2.58	5.75	5.75	0.90469	.	0.000000	0.51477	D	0.000084	T	0.24044	0.0582	L	0.54323	1.7	0.36918	D	0.891234	D	0.71674	0.998	P	0.53224	0.721	T	0.03000	-1.1084	10	0.27785	T	0.31	-21.0346	15.4434	0.75208	0.0:0.0:1.0:0.0	.	110	O14944	EREG_HUMAN	I	110	ENSP00000244869:V110I	ENSP00000244869:V110I	V	+	1	0	EREG	75467275	0.996000	0.38824	0.929000	0.37066	0.770000	0.43624	2.936000	0.48971	2.716000	0.92895	0.655000	0.94253	GTC		0.373	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			58	60	0	0	0	1	0	58	60				
NRXN1	9378	broad.mit.edu	37	2	51254857	51254857	+	Silent	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51254857A>T	ENST00000406316.2	-	2	2031	c.555T>A	c.(553-555)cgT>cgA	p.R185R	NRXN1_ENST00000406859.3_Silent_p.R185R|NRXN1_ENST00000405581.1_Silent_p.R185R|NRXN1_ENST00000405472.3_Silent_p.R185R|NRXN1_ENST00000402717.3_Silent_p.R185R|NRXN1_ENST00000401669.2_Silent_p.R185R|NRXN1_ENST00000404971.1_Silent_p.R185R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCTCACGTCACGAATCCACC	0.706																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(553-555)cgT>cgA		neurexin 1							29.0	37.0	34.0					2																	51254857		2074	4191	6265	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254857A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.555T>A	2.37:g.51254857A>T						NRXN1_ENST00000406316.2_Silent_p.R185R|NRXN1_ENST00000405472.3_Silent_p.R185R|NRXN1_ENST00000401669.2_Silent_p.R185R|NRXN1_ENST00000402717.3_Silent_p.R185R|NRXN1_ENST00000405581.1_Silent_p.R185R|NRXN1_ENST00000406859.3_Silent_p.R185R	p.R185R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1894	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	185			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.555T>A	CCDS54360.1																																																																																				0.706	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			6	18	0	0	0	1	0	6	18				
CCP110	9738	broad.mit.edu	37	16	19548505	19548505	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr16:19548505A>G	ENST00000381396.5	+	4	1761	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	CCP110_ENST00000396208.2_Missense_Mutation_p.H505R|CCP110_ENST00000396212.2_Missense_Mutation_p.H505R	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	505	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCAAAGCTGCATGAACCATAT	0.453																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(1513-1515)cAt>cGt		centriolar coiled coil protein 110kDa							78.0	70.0	73.0					16																	19548505		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548505A>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1514A>G	16.37:g.19548505A>G	ENSP00000370803:p.His505Arg					CCP110_ENST00000396208.2_Missense_Mutation_p.H505R|CCP110_ENST00000381396.5_Missense_Mutation_p.H505R	p.H505R	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1950	+			505			Interaction with CEP76.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1514A>G	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	A	6.146	0.395179	0.11638	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.14516	2.5;2.5;2.5	5.68	0.689	0.18033	.	0.636140	0.15686	N	0.249652	T	0.12860	0.0312	L	0.48642	1.525	0.09310	N	1	B;B	0.31599	0.216;0.33	B;B	0.33521	0.165;0.165	T	0.16748	-1.0392	10	0.66056	D	0.02	-16.2557	8.5539	0.33469	0.4044:0.4686:0.127:0.0	.	505;505	O43303;O43303-2	CP110_HUMAN;.	R	505	ENSP00000379515:H505R;ENSP00000370803:H505R;ENSP00000379511:H505R	ENSP00000370803:H505R	H	+	2	0	CCP110	19456006	0.000000	0.05858	0.001000	0.08648	0.381000	0.30169	0.089000	0.15002	-0.155000	0.11098	0.460000	0.39030	CAT		0.453	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		17	81	0	0	0	1	0	17	81				
PRKCB	5579	broad.mit.edu	37	16	23847620	23847620	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr16:23847620C>T	ENST00000321728.7	+	1	299	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	PRKCB_ENST00000498058.1_Missense_Mutation_p.R42C|PRKCB_ENST00000303531.7_Missense_Mutation_p.R42C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	42					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ATTCACCGCCCGCTTCTTCAA	0.687																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(124-126)Cgc>Tgc		protein kinase C, beta	Vitamin E(DB00163)						97.0	86.0	90.0					16																	23847620		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847620C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.124C>T	16.37:g.23847620C>T	ENSP00000318315:p.Arg42Cys					PRKCB_ENST00000321728.7_Missense_Mutation_p.R42C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R42C	p.R42C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	276	+			42					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.124C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382943	0.61845	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.86497	-2.13;-2.13	3.78	2.82	0.32997	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.64402	U	0.000002	D	0.90497	0.7023	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.979;0.992	D	0.88458	0.3053	10	0.87932	D	0	.	4.9433	0.13976	0.2068:0.6777:0.0:0.1155	.	42;42	P05771-2;P05771	.;KPCB_HUMAN	C	42	ENSP00000318315:R42C;ENSP00000305355:R42C	ENSP00000305355:R42C	R	+	1	0	PRKCB	23755121	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.077000	0.57598	0.696000	0.31696	0.467000	0.42956	CGC		0.687	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		13	203	0	0	0	1	0	13	203				
ESPNP	284729	broad.mit.edu	37	1	17029228	17029228	+	RNA	SNP	G	G	A	rs553071177		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:17029228G>A	ENST00000492551.1	-	0	1137					NR_026567.1				espin pseudogene																		TCCACGTGGCGGAGTTTGTTC	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		18664	0.0		0.0	False		,,,				2504	0.001					ENST00000492551.1																			0																																																			284729							g.chr1:17029228G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029228G>A								NR_026567.1						0	1137	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			13	216	0	0	0	1	0	13	216				
POMT2	29954	broad.mit.edu	37	14	77786986	77786986	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786986C>T	ENST00000261534.4	-	1	241	c.39G>A	c.(37-39)gaG>gaA	p.E13E	GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	13						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGGACGCAGCTCGGACTCTG	0.751																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(37-39)gaG>gaA		protein-O-mannosyltransferase 2							7.0	9.0	8.0					14																	77786986		1753	3731	5484	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77786986C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.39G>A	14.37:g.77786986C>T							p.E13E	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	241	-			13					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.39G>A	CCDS9857.1																																																																																				0.751	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		7	17	0	0	0	1	0	7	17				
MC4R	4160	broad.mit.edu	37	18	58039270	58039270	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:58039270T>C	ENST00000299766.3	-	1	731	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	105					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TTTAATAGGGTGATGACAATG	0.423																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(313-315)Acc>Gcc		melanocortin 4 receptor							105.0	97.0	100.0					18																	58039270		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039270T>C	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.313A>G	18.37:g.58039270T>C	ENSP00000299766:p.Thr105Ala						p.T105A	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	731	-		Colorectal(73;0.0946)	105					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.313A>G	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	T	7.199	0.593150	0.13875	.	.	ENSG00000166603	ENST00000299766	T	0.35973	1.28	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.100985	0.64402	D	0.000002	T	0.11665	0.0284	N	0.00446	-1.495	0.45515	D	0.99847	B	0.02656	0.0	B	0.04013	0.001	T	0.26538	-1.0100	10	0.16420	T	0.52	.	14.2	0.65696	0.0:0.0:0.0:1.0	.	105	P32245	MC4R_HUMAN	A	105	ENSP00000299766:T105A	ENSP00000299766:T105A	T	-	1	0	MC4R	56190250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.975000	0.49281	2.241000	0.73720	0.533000	0.62120	ACC		0.423	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		19	103	0	0	0	1	0	19	103				
PTPN4	5775	broad.mit.edu	37	2	120709607	120709607	+	Missense_Mutation	SNP	G	G	A	rs200942412		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:120709607G>A	ENST00000263708.2	+	19	2486	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	PTPN4_ENST00000544261.1_Missense_Mutation_p.R205Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	572	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCAATGGTCGGGACATTGCA	0.428																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1714-1716)cGg>cAg		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)	G	GLN/ARG	0,4406		0,0,2203	160.0	144.0	150.0		1715	3.4	1.0	2		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN4	NM_002830.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	572/927	120709607	1,13005	2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120709607G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1715G>A	2.37:g.120709607G>A	ENSP00000263708:p.Arg572Gln					PTPN4_ENST00000544261.1_Missense_Mutation_p.R205Q	p.R572Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			19	2486	+			572			PDZ.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1715G>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070593	0.93950	0.0	1.16E-4	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.25579	1.79;1.79	6.07	3.36	0.38483	PDZ/DHR/GLGF (4);	0.142769	0.64402	N	0.000008	T	0.14313	0.0346	N	0.25201	0.72	0.52099	D	0.999945	P	0.41450	0.75	B	0.31016	0.123	T	0.03221	-1.1059	10	0.52906	T	0.07	.	11.5076	0.50476	0.1921:0.0:0.8079:0.0	.	572	P29074	PTN4_HUMAN	Q	572;205	ENSP00000263708:R572Q;ENSP00000445841:R205Q	ENSP00000263708:R572Q	R	+	2	0	PTPN4	120426077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.613000	0.67688	0.476000	0.27440	0.655000	0.94253	CGG		0.428	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			30	72	0	0	0	1	0	30	72				
OGDH	4967	broad.mit.edu	37	7	44685013	44685013	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:44685013C>G	ENST00000222673.5	+	3	352	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	OGDH_ENST00000444676.1_Missense_Mutation_p.L104V|OGDH_ENST00000447398.1_Missense_Mutation_p.L104V|OGDH_ENST00000443864.2_Missense_Mutation_p.L104V|OGDH_ENST00000543843.1_Missense_Mutation_p.L44V|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Missense_Mutation_p.L104V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	104					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCGAGGCTCCCTGGCTGCTGT	0.592																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(310-312)Ctg>Gtg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						92.0	91.0	91.0					7																	44685013		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44685013C>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.310C>G	7.37:g.44685013C>G	ENSP00000222673:p.Leu104Val					OGDH_ENST00000449767.1_Missense_Mutation_p.L104V|OGDH_ENST00000447398.1_Missense_Mutation_p.L104V|OGDH_ENST00000443864.2_Missense_Mutation_p.L104V|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.L104V|OGDH_ENST00000543843.1_Missense_Mutation_p.L44V	p.L104V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	352	+			104					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.310C>G	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933290	0.18131	.	.	ENSG00000105953	ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.81	3.82	0.43975	.	0.171210	0.38720	N	0.001596	T	0.29620	0.0739	L	0.45051	1.395	0.50467	D	0.999878	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.007;0.007;0.004;0.002	T	0.08680	-1.0710	10	0.19147	T	0.46	-15.0954	6.0546	0.19804	0.1496:0.6877:0.0:0.1627	.	104;104;104;104	E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;ODO1_HUMAN;.	V	104;104;104;104;104;104;44	ENSP00000388084:L104V;ENSP00000392878:L104V;ENSP00000388183:L104V;ENSP00000411830:L104V;ENSP00000414662:L104V;ENSP00000222673:L104V;ENSP00000443821:L44V	ENSP00000222673:L104V	L	+	1	2	OGDH	44651538	0.928000	0.31464	0.998000	0.56505	0.903000	0.53119	0.841000	0.27613	1.359000	0.45940	-0.345000	0.07892	CTG		0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			32	91	0	0	0	1	0	32	91				
PTPRM	5797	broad.mit.edu	37	18	8248168	8248168	+	Intron	SNP	A	A	G	rs527524261		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:8248168A>G	ENST00000332175.8	+	16	3564				PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400060.4_Missense_Mutation_p.I850V|PTPRM_ENST00000580170.1_Missense_Mutation_p.I850V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCAACTGCAATTTTAGGTGA	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		21714	0.0		0.001	False		,,,				2504	0.0					ENST00000580170.1																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2548-2550)Att>Gtt		protein tyrosine phosphatase, receptor type, M							276.0	275.0	275.0					18																	8248168		2116	4238	6354	SO:0001627	intron_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8248168A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2527+251A>G	18.37:g.8248168A>G						PTPRM_ENST00000332175.8_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000400060.4_Missense_Mutation_p.I850V	p.I850V	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN			17	3585	+		Colorectal(10;0.234)	842					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2548A>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171467	0.09391	.	.	ENSG00000173482	ENST00000400060	T	0.36699	1.24	6.17	6.17	0.99709	.	.	.	.	.	T	0.34048	0.0884	N	0.08118	0	0.80722	D	1	P	0.48640	0.913	P	0.61592	0.891	T	0.12066	-1.0562	9	0.02654	T	1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	850	A7MBN1	.	V	850	ENSP00000382933:I850V	ENSP00000382933:I850V	I	+	1	0	PTPRM	8238168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.365000	0.73090	2.371000	0.80710	0.533000	0.62120	ATT		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			153	128	0	0	0	1	0	153	128				
MLNR	2862	broad.mit.edu	37	13	49796314	49796314	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:49796314G>A	ENST00000218721.1	+	2	1040	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	347					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TTCTATCTGAGCGCATCTATC	0.468																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1039-1041)aGc>aAc		motilin receptor							191.0	180.0	184.0					13																	49796314		2203	4300	6503	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796314G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1040G>A	13.37:g.49796314G>A	ENSP00000218721:p.Ser347Asn					MLNR_ENST00000398307.1_3'UTR	p.S347N	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1040	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	347						Missense_Mutation	SNP	ENST00000218721.1	37	c.1040G>A	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281756	0.80692	.	.	ENSG00000102539	ENST00000218721	T	0.29655	1.56	5.13	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.101366	0.64402	U	0.000003	T	0.36413	0.0966	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.11891	-1.0569	10	0.11182	T	0.66	.	9.1582	0.37005	0.0771:0.0:0.7766:0.1463	.	347	O43193	MTLR_HUMAN	N	347	ENSP00000218721:S347N	ENSP00000218721:S347N	S	+	2	0	MLNR	48694315	1.000000	0.71417	0.454000	0.27019	0.974000	0.67602	7.775000	0.85489	0.635000	0.30488	0.650000	0.86243	AGC		0.468	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		98	255	0	0	0	1	0	98	255				
RET	5979	broad.mit.edu	37	10	43606838	43606838	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:43606838T>G	ENST00000355710.3	+	7	1679	c.1447T>G	c.(1447-1449)Tac>Gac	p.Y483D	RET_ENST00000340058.5_Missense_Mutation_p.Y483D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	483					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGAACTTCACTACATGGTGGT	0.632		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1447-1449)Tac>Gac		ret proto-oncogene	Sunitinib(DB01268)						60.0	55.0	57.0					10																	43606838		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606838T>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1447T>G	10.37:g.43606838T>G	ENSP00000347942:p.Tyr483Asp					RET_ENST00000340058.5_Missense_Mutation_p.Y483D	p.Y483D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			7	1679	+		Ovarian(717;0.0423)	483					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1447T>G	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824852	0.50739	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80480	-1.26;-1.38	5.74	3.31	0.37934	.	0.108387	0.64402	D	0.000003	D	0.85388	0.5685	M	0.79475	2.455	0.54753	D	0.99998	P;P;D	0.55385	0.855;0.913;0.971	B;P;P	0.56823	0.393;0.646;0.807	D	0.83759	0.0213	10	0.56958	D	0.05	.	8.942	0.35736	0.1256:0.0:0.1319:0.7425	.	229;483;483	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	483	ENSP00000347942:Y483D;ENSP00000344798:Y483D	ENSP00000344798:Y483D	Y	+	1	0	RET	42926844	1.000000	0.71417	0.876000	0.34364	0.058000	0.15608	5.339000	0.65953	0.397000	0.25310	0.533000	0.62120	TAC		0.632	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		32	60	0	0	0	1	0	32	60				
METAP2	10988	broad.mit.edu	37	12	95869846	95869846	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:95869846G>A	ENST00000323666.5	+	2	380		c.e2-1		METAP2_ENST00000546753.1_Splice_Site|METAP2_ENST00000261220.9_Intron|METAP2_ENST00000550777.1_Intron|METAP2_ENST00000551840.1_Intron	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						ATTTTGATCAGCAGGGGAACA	0.378																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.e2-1		methionyl aminopeptidase 2	L-Methionine(DB00134)						62.0	63.0	63.0					12																	95869846		2203	4300	6503	SO:0001630	splice_region_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95869846G>A	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.152-1G>A	12.37:g.95869846G>A						METAP2_ENST00000551840.1_Intron|METAP2_ENST00000550777.1_Intron|METAP2_ENST00000546753.1_Splice_Site|METAP2_ENST00000261220.9_Intron		NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			2	380	+									Splice_Site	SNP	ENST00000323666.5	37		CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597229	0.28445	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000549502	.	.	.	4.93	-0.124	0.13523	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.741	0.34558	0.5189:0.0:0.4811:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METAP2	94393977	0.847000	0.29606	0.830000	0.32933	0.980000	0.70556	0.483000	0.22292	-0.106000	0.12110	0.650000	0.86243	.		0.378	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	Intron	16	26	0	0	0	1	0	16	26				
SYMPK	8189	broad.mit.edu	37	19	46329491	46329491	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:46329491C>A	ENST00000245934.7	-	17	2566	c.2322G>T	c.(2320-2322)aaG>aaT	p.K774N	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	774					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AACCTGTGTCCTTGTCAGCTC	0.597																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2320-2322)aaG>aaT		symplekin							107.0	80.0	89.0					19																	46329491		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46329491C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2322G>T	19.37:g.46329491C>A	ENSP00000245934:p.Lys774Asn						p.K774N	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	17	2566	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	774					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2322G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	8.177	0.792872	0.16327	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.17	2.03	0.26663	Armadillo-like helical (1);Armadillo-type fold (1);	0.173828	0.49916	D	0.000139	T	0.24890	0.0604	N	0.25647	0.755	0.46149	D	0.99889	P;B	0.40398	0.716;0.007	B;B	0.28849	0.095;0.01	T	0.04294	-1.0962	9	0.20046	T	0.44	.	9.1099	0.36720	0.0:0.8133:0.0:0.1867	.	789;774	Q4LE61;Q92797	.;SYMPK_HUMAN	N	774	.	ENSP00000245934:K774N	K	-	3	2	SYMPK	51021331	0.999000	0.42202	1.000000	0.80357	0.687000	0.40016	0.595000	0.24029	0.510000	0.28216	-0.355000	0.07637	AAG		0.597	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	18	1	0	0.00116845	1	0.00121925	6	18				
C10orf71	118461	broad.mit.edu	37	10	50531159	50531159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:50531159C>T	ENST00000374144.3	+	3	857	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C10orf71_ENST00000323868.4_Missense_Mutation_p.S190F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	190										endometrium(1)	1						TGCTTCGATTCTGCCTTTCTG	0.547																																						ENST00000374144.3																			0				endometrium(1)	1						c.(568-570)tCt>tTt		chromosome 10 open reading frame 71							36.0	37.0	36.0					10																	50531159		1994	4156	6150	SO:0001583	missense	118461							g.chr10:50531159C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.569C>T	10.37:g.50531159C>T	ENSP00000363259:p.Ser190Phe					C10orf71_ENST00000323868.4_Missense_Mutation_p.S190F	p.S190F			Q711Q0	CJ071_HUMAN			3	857	+			190					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.569C>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670318	0.67814	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.20332	2.08;3.2	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000285	T	0.45054	0.1323	M	0.68952	2.095	0.45056	D	0.99807	D	0.89917	1.0	D	0.80764	0.994	T	0.38499	-0.9658	10	0.87932	D	0	.	14.8441	0.70246	0.1444:0.8556:0.0:0.0	.	190	Q711Q0-3	.	F	190	ENSP00000318713:S190F;ENSP00000363259:S190F	ENSP00000318713:S190F	S	+	2	0	C10orf71	50201165	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.893000	0.48633	2.530000	0.85305	0.561000	0.74099	TCT		0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		8	33	0	0	0	1	0	8	33				
KATNA1	11104	broad.mit.edu	37	6	149918671	149918671	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:149918671C>T	ENST00000335647.5	-	8	1166	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	SNORA2_ENST00000365473.1_RNA|KATNA1_ENST00000335643.8_Silent_p.E298E|KATNA1_ENST00000367411.2_Silent_p.E374E|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGATTCGTTTCTCAAGGCGTC	0.378																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1120-1122)gaG>gaA		katanin p60 (ATPase containing) subunit A 1							111.0	114.0	113.0					6																	149918671		2203	4300	6503	SO:0001819	synonymous_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149918671C>T	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1122G>A	6.37:g.149918671C>T						KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Silent_p.E298E|KATNA1_ENST00000335647.5_Silent_p.E374E	p.E374E	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	9	1380	-		Ovarian(120;0.0164)	374						Silent	SNP	ENST00000335647.5	37	c.1122G>A	CCDS5217.1																																																																																				0.378	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		31	43	0	0	0	1	0	31	43				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	65	0	0	0	1	0	4	65				
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T	rs187453727	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		18421	0.0069		0.0	False		,,,				2504	0.0					ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(625-627)caC>caT		patatin-like phospholipase domain containing 1							103.0	83.0	90.0					6																	36262089		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262089C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.627C>T	6.37:g.36262089C>T						PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	p.H209H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	627	+			209					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.627C>T	CCDS54997.1																																																																																				0.622	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		18	72	0	0	0	1	0	18	72				
MLIP	90523	broad.mit.edu	37	6	54025547	54025547	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:54025547G>C	ENST00000274897.5	+	7	957	c.844G>C	c.(844-846)Gat>Cat	p.D282H	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.D806H|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.D178H|MLIP_ENST00000502396.1_Missense_Mutation_p.D817H	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	282						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCATTCTTCTGATTCTCCTTC	0.338																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2416-2418)Gat>Cat		muscular LMNA-interacting protein							39.0	40.0	40.0					6																	54025547		2201	4299	6500	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54025547G>C	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.844G>C	6.37:g.54025547G>C	ENSP00000274897:p.Asp282His					MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.D178H|MLIP_ENST00000502396.1_Missense_Mutation_p.D817H|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.D282H|MLIP_ENST00000509997.1_Intron	p.D806H			Q5VWP3	MLIP_HUMAN			8	2529	+			282					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.2416G>C	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102389	0.56183	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000502396	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.48	5.48	0.80851	.	0.485095	0.20996	N	0.081957	T	0.48390	0.1497	L	0.54323	1.7	0.80722	D	1	D;B;D	0.65815	0.995;0.225;0.992	P;B;P	0.61132	0.884;0.078;0.826	T	0.48937	-0.8990	10	0.66056	D	0.02	-4.1955	14.8512	0.70297	0.0:0.0:1.0:0.0	.	817;282;806	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	H	282;806;178;817	ENSP00000274897:D282H;ENSP00000425142:D806H;ENSP00000359914:D178H;ENSP00000426290:D817H	ENSP00000274897:D282H	D	+	1	0	MLIP	54133506	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.467000	0.60155	2.582000	0.87167	0.563000	0.77884	GAT		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		33	99	0	0	0	1	0	33	99				
CREB3L1	90993	broad.mit.edu	37	11	46337910	46337910	+	Missense_Mutation	SNP	G	G	A	rs201046043		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:46337910G>A	ENST00000529193.1	+	9	1556	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.A369T|CREB3L1_ENST00000534616.1_Intron			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	369					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAAGATGGCCGCCACCCAGAC	0.597			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1105-1107)Gcc>Acc		cAMP responsive element binding protein 3-like 1		G	THR/ALA	0,4102		0,0,2051	25.0	28.0	27.0		1105	4.5	1.0	11		27	5,8357		0,5,4176	yes	missense	CREB3L1	NM_052854.2	58	0,5,6227	AA,AG,GG		0.0598,0.0,0.0401	benign	369/520	46337910	5,12459	2051	4181	6232	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46337910G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1105G>A	11.37:g.46337910G>A	ENSP00000434939:p.Ala369Thr					CREB3L1_ENST00000534616.1_Intron|CREB3L1_ENST00000288400.3_Missense_Mutation_p.A369T	p.A369T			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	9	1556	+			369					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.1105G>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678121	0.47886	0.0	5.98E-4	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.64260	-0.09;-0.09	5.49	4.52	0.55395	.	0.058465	0.64402	D	0.000001	T	0.47414	0.1444	L	0.36672	1.1	0.32372	N	0.555694	B;B	0.31655	0.334;0.291	B;B	0.25759	0.063;0.015	T	0.51957	-0.8639	10	0.13853	T	0.58	-1.402	14.0123	0.64505	0.0:0.0:0.7803:0.2197	.	281;369	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	T	369;369;281	ENSP00000434939:A369T;ENSP00000288400:A369T	ENSP00000288400:A369T	A	+	1	0	CREB3L1	46294486	0.959000	0.32827	0.966000	0.40874	0.944000	0.59088	1.573000	0.36472	2.737000	0.93849	0.643000	0.83706	GCC		0.597	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		3	10	0	0	0	1	0	3	10				
HIAT1	64645	broad.mit.edu	37	1	100533616	100533616	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:100533616G>C	ENST00000370152.3	+	6	706	c.570G>C	c.(568-570)gtG>gtC	p.V190V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	190					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAGCTTGGTGGTGGTCTTAG	0.458																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(568-570)gtG>gtC		hippocampus abundant transcript 1							268.0	253.0	258.0					1																	100533616		2203	4300	6503	SO:0001819	synonymous_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100533616G>C	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.570G>C	1.37:g.100533616G>C						RP4-714D9.2_ENST00000432294.1_RNA	p.V190V	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	6	706	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	190					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	c.570G>C	CCDS763.1																																																																																				0.458	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		35	88	0	0	0	1	0	35	88				
POMT2	29954	broad.mit.edu	37	14	77786985	77786985	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786985G>T	ENST00000261534.4	-	1	242	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	14						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGGGGACGCAGCTCGGACTCT	0.751																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(40-42)Ctg>Atg		protein-O-mannosyltransferase 2							7.0	8.0	8.0					14																	77786985		1754	3730	5484	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77786985G>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.40C>A	14.37:g.77786985G>T	ENSP00000261534:p.Leu14Met						p.L14M	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	242	-			14					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.40C>A	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318707	0.23994	.	.	ENSG00000009830	ENST00000261534	T	0.78364	-1.17	4.99	4.09	0.47781	.	0.879051	0.09740	N	0.761940	T	0.61726	0.2370	N	0.08118	0	0.26446	N	0.975691	P	0.38922	0.651	B	0.37091	0.241	T	0.53121	-0.8483	10	0.46703	T	0.11	0.1664	12.0803	0.53667	0.0:0.0:0.8279:0.1721	.	14	Q9UKY4	POMT2_HUMAN	M	14	ENSP00000261534:L14M	ENSP00000261534:L14M	L	-	1	2	POMT2	76856738	1.000000	0.71417	0.248000	0.24265	0.003000	0.03518	3.355000	0.52262	1.084000	0.41184	0.655000	0.94253	CTG		0.751	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		7	16	1	0	1	1	1	7	16				
TRBV5-7	28608	broad.mit.edu	37	7	142111625	142111625	+	RNA	SNP	G	G	T	rs201768550	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:142111625G>T	ENST00000390378.1	-	0	110									T cell receptor beta variable 5-7 (non-functional)																		TCAGAGTCACGTGCTGTCCTC	0.532													.|||	2	0.000399361	0.0	0.0014	5008	,	,		20313	0.0		0.0	False		,,,				2504	0.001					ENST00000390378.1																			0																				146.0	139.0	141.0					7																	142111625		1995	4171	6166			28608							g.chr7:142111625G>T	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111625G>T														0	110	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.532	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		4	150	1	0	1.12685e-05	1	1.21353e-05	4	150				
SERPINA9	327657	broad.mit.edu	37	14	94933514	94933514	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:94933514C>G	ENST00000380365.3	-	3	912	c.834G>C	c.(832-834)aaG>aaC	p.K278N	SERPINA9_ENST00000448305.2_Missense_Mutation_p.K198N|SERPINA9_ENST00000298845.7_Missense_Mutation_p.K196N|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K147N|SERPINA9_ENST00000337425.5_Missense_Mutation_p.K296N|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K260N			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	278					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGCCTCATCTTGCCCTTGC	0.532																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(886-888)aaG>aaC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							107.0	102.0	104.0					14																	94933514		2021	4197	6218	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933514C>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.834G>C	14.37:g.94933514C>G	ENSP00000369723:p.Lys278Asn					SERPINA9_ENST00000298845.7_Missense_Mutation_p.K196N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K260N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K198N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K147N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K278N	p.K296N	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	962	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	278					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.888G>C		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679187	0.47886	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	3.89	2.03	0.26663	Serpin domain (3);	0.866615	0.09784	N	0.756296	D	0.90964	0.7159	M	0.66560	2.04	0.32347	N	0.558918	D;P;D;P;D	0.76494	0.998;0.923;0.995;0.786;0.999	D;P;D;B;D	0.71184	0.94;0.77;0.94;0.163;0.972	D	0.85787	0.1365	10	0.59425	D	0.04	.	6.5766	0.22571	0.0:0.6764:0.15:0.1736	.	260;278;198;296;196	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	N	198;196;147;296;278;260	ENSP00000414092:K198N;ENSP00000298845:K196N;ENSP00000409012:K147N;ENSP00000337133:K296N;ENSP00000369723:K278N;ENSP00000445476:K260N	ENSP00000298845:K196N	K	-	3	2	SERPINA9	94003267	0.969000	0.33509	0.769000	0.31535	0.767000	0.43475	0.518000	0.22847	0.428000	0.26173	-0.448000	0.05591	AAG		0.532	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		24	54	0	0	0	1	0	24	54				
KIF1B	23095	broad.mit.edu	37	1	10397556	10397556	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:10397556C>T	ENST00000377086.1	+	31	3589	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	KIF1B_ENST00000263934.6_Silent_p.I1083I|KIF1B_ENST00000377081.1_Silent_p.I1129I			O60333	KIF1B_HUMAN	kinesin family member 1B	1129					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGTGGAATCCTCCCAGAGT	0.502																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3385-3387)atC>atT		kinesin family member 1B							166.0	164.0	165.0					1																	10397556		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10397556C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3387C>T	1.37:g.10397556C>T						KIF1B_ENST00000263934.6_Silent_p.I1083I|KIF1B_ENST00000377081.1_Silent_p.I1129I	p.I1129I			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	31	3589	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1129					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.3387C>T																																																																																					0.502	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			55	124	0	0	0	1	0	55	124				
SFXN5	94097	broad.mit.edu	37	2	73198781	73198781	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:73198781C>A	ENST00000272433.2	-	11	789	c.659G>T	c.(658-660)cGg>cTg	p.R220L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	220					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTCCCCGTACCGCATCAGGAC	0.602																																						ENST00000272433.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(658-660)cGg>cTg		sideroflexin 5							111.0	78.0	89.0					2																	73198781		2203	4300	6503	SO:0001583	missense	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73198781C>A	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.659G>T	2.37:g.73198781C>A	ENSP00000272433:p.Arg220Leu					SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	p.R220L	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN			11	789	-			220					A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.659G>T	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970950	0.92919	.	.	ENSG00000144040	ENST00000272433	T	0.57273	0.41	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87030	0.2134	10	0.87932	D	0	-28.1728	15.1697	0.72862	0.0:1.0:0.0:0.0	.	69;116;220	B4DIJ8;B4DGS9;Q8TD22	.;.;SFXN5_HUMAN	L	220	ENSP00000272433:R220L	ENSP00000272433:R220L	R	-	2	0	SFXN5	73052289	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.969000	0.76092	2.437000	0.82529	0.462000	0.41574	CGG		0.602	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		9	36	1	0	1.58986e-06	1	1.7344e-06	9	36				
HMX2	3167	broad.mit.edu	37	10	124909540	124909540	+	Silent	SNP	G	G	A	rs139853496		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:124909540G>A	ENST00000339992.3	+	2	980	c.723G>A	c.(721-723)ccG>ccA	p.P241P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	241					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGCGCGTGCCGGTGCCGCGCT	0.647																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(721-723)ccG>ccA		H6 family homeobox 2		G		1,4369		0,1,2184	13.0	14.0	13.0		723	-7.4	0.9	10	dbSNP_134	13	0,8566		0,0,4283	no	coding-synonymous	HMX2	NM_005519.1		0,1,6467	AA,AG,GG		0.0,0.0229,0.0077		241/274	124909540	1,12935	2185	4283	6468	SO:0001819	synonymous_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909540G>A		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.723G>A	10.37:g.124909540G>A							p.P241P	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	980	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	241					B2RNV5	Silent	SNP	ENST00000339992.3	37	c.723G>A	CCDS31305.1																																																																																				0.647	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		3	12	0	0	0	1	0	3	12				
CHTOP	26097	broad.mit.edu	37	1	153617664	153617664	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:153617664A>G	ENST00000368694.3	+	6	978	c.666A>G	c.(664-666)gcA>gcG	p.A222A	CHTOP_ENST00000403433.1_Silent_p.A176A|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368687.1_Silent_p.A197A|CHTOP_ENST00000368690.3_Silent_p.A176A	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	222					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AATTGGATGCATATATGTCGA	0.562																																						ENST00000368694.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						c.(664-666)gcA>gcG		chromatin target of PRMT1							125.0	116.0	119.0					1																	153617664		2203	4300	6503	SO:0001819	synonymous_variant	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153617664A>G		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.666A>G	1.37:g.153617664A>G						CHTOP_ENST00000368687.1_Silent_p.A197A|CHTOP_ENST00000368690.3_Silent_p.A176A|CHTOP_ENST00000403433.1_Silent_p.A176A|CHTOP_ENST00000495554.1_3'UTR	p.A222A	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN			6	978	+			222					D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Silent	SNP	ENST00000368694.3	37	c.666A>G	CCDS1048.1																																																																																				0.562	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		33	57	0	0	0	1	0	33	57				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	44	0	0	0	1	0	4	44				
TSPAN13	27075	broad.mit.edu	37	7	16815960	16815960	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:16815960G>A	ENST00000262067.4	+	2	621	c.188G>A	c.(187-189)gGt>gAt	p.G63D	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	63						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTTTAGTGGGTCTGATTGGA	0.428																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(187-189)gGt>gAt		tetraspanin 13							240.0	210.0	220.0					7																	16815960		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16815960G>A	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.188G>A	7.37:g.16815960G>A	ENSP00000262067:p.Gly63Asp					TSPAN13_ENST00000466195.1_3'UTR	p.G63D	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	2	621	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		63						Missense_Mutation	SNP	ENST00000262067.4	37	c.188G>A	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914210	0.72983	.	.	ENSG00000106537	ENST00000262067	D	0.94897	-3.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98537	1.0630	10	0.87932	D	0	-10.8544	19.3875	0.94564	0.0:0.0:1.0:0.0	.	63	O95857	TSN13_HUMAN	D	63	ENSP00000262067:G63D	ENSP00000262067:G63D	G	+	2	0	TSPAN13	16782485	1.000000	0.71417	0.981000	0.43875	0.179000	0.23085	9.869000	0.99810	2.570000	0.86706	0.655000	0.94253	GGT		0.428	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		40	114	0	0	0	1	0	40	114				
WDR5B	54554	broad.mit.edu	37	3	122134164	122134164	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:122134164T>C	ENST00000330689.4	-	1	718	c.212A>G	c.(211-213)tAt>tGt	p.Y71C	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	71								p.Y71C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTTTCCATCATATGCTCCCCA	0.413																																						ENST00000330689.4																			1	Substitution - Missense(1)	p.Y71C(1)	kidney(1)	kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(211-213)tAt>tGt		WD repeat domain 5B							144.0	146.0	145.0					3																	122134164		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134164T>C	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.212A>G	3.37:g.122134164T>C	ENSP00000330381:p.Tyr71Cys						p.Y71C	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	718	-			71					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.212A>G	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567440	0.28003	.	.	ENSG00000196981	ENST00000330689	T	0.81247	-1.47	4.64	2.28	0.28536	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111354	0.64402	N	0.000006	T	0.66954	0.2842	N	0.25380	0.74	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.59456	-0.7451	10	0.54805	T	0.06	.	8.3014	0.32017	0.0:0.1324:0.0:0.8676	.	71	Q86VZ2	WDR5B_HUMAN	C	71	ENSP00000330381:Y71C	ENSP00000330381:Y71C	Y	-	2	0	WDR5B	123616854	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.750000	0.47500	0.395000	0.25257	0.379000	0.24179	TAT		0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		68	242	0	0	0	1	0	68	242				
MIB2	142678	broad.mit.edu	37	1	1563210	1563210	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:1563210G>A	ENST00000357210.4	+	13	2070		c.e13+1		MIB2_ENST00000520777.1_Splice_Site|MIB2_ENST00000504599.1_Splice_Site|MIB2_ENST00000378708.1_Splice_Site|MIB2_ENST00000360522.4_Splice_Site|MIB2_ENST00000378710.3_Splice_Site|MIB2_ENST00000355826.5_Splice_Site|MIB2_ENST00000518681.1_Splice_Site|MIB2_ENST00000378712.1_Splice_Site|MIB2_ENST00000505820.2_Splice_Site	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2						Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACCTGCCCGTGAGTGCTGC	0.692																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.e13+1		mindbomb E3 ubiquitin protein ligase 2							21.0	28.0	26.0					1																	1563210		2191	4274	6465	SO:0001630	splice_region_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563210G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1854+1G>A	1.37:g.1563210G>A						MIB2_ENST00000378712.1_Splice_Site|MIB2_ENST00000360522.4_Splice_Site|MIB2_ENST00000355826.5_Splice_Site|MIB2_ENST00000504599.1_Splice_Site|MIB2_ENST00000378708.1_Splice_Site|MIB2_ENST00000518681.1_Splice_Site|MIB2_ENST00000520777.1_Splice_Site|MIB2_ENST00000505820.2_Splice_Site|MIB2_ENST00000378710.3_Splice_Site		NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	2070	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)						A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Splice_Site	SNP	ENST00000357210.4	37			.	.	.	.	.	.	.	.	.	.	.	11.60	1.687048	0.29962	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708;ENST00000514234	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8761	0.57991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIB2	1553073	1.000000	0.71417	0.981000	0.43875	0.317000	0.28152	8.196000	0.89725	1.925000	0.55765	0.379000	0.24179	.		0.692	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875	Intron	7	18	0	0	0	1	0	7	18				
ZNF672	79894	broad.mit.edu	37	1	249142406	249142406	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:249142406C>T	ENST00000306562.3	+	4	1679	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGAAGCCCTTCGCGTGCCCCG	0.711																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(931-933)ttC>ttT		zinc finger protein 672							13.0	14.0	13.0					1																	249142406		2193	4278	6471	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142406C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.933C>T	1.37:g.249142406C>T							p.F311F	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1679	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	311					Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.933C>T	CCDS1638.1																																																																																				0.711	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		16	21	0	0	0	1	0	16	21				
STXBP1	6812	broad.mit.edu	37	9	130444818	130444818	+	Missense_Mutation	SNP	G	G	A	rs369960553		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:130444818G>A	ENST00000373299.1	+	18	1796	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Missense_Mutation_p.G561R	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	561					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCAGGCCAACGGAAAGTGGGA	0.617																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1681-1683)Gga>Aga		syntaxin binding protein 1		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	93.0	71.0	79.0		1681,1681	5.6	0.7	9		79	0,8600		0,0,4300	no	missense,missense	STXBP1	NM_001032221.3,NM_003165.3	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	561/595,561/604	130444818	1,13005	2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130444818G>A	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1681G>A	9.37:g.130444818G>A	ENSP00000362396:p.Gly561Arg					STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.G561R	p.G561R	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			18	1820	+			561					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1681G>A	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906798	0.72868	2.27E-4	0.0	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	D;D	0.81739	-1.53;-1.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	L	0.49455	1.56	0.80722	D	1	B;B	0.25441	0.126;0.101	B;B	0.16722	0.013;0.016	T	0.72360	-0.4317	10	0.38643	T	0.18	-10.5021	17.1696	0.86826	0.0:0.0:1.0:0.0	.	561;561	P61764;P61764-2	STXB1_HUMAN;.	R	515;561;393;561	ENSP00000362399:G561R;ENSP00000362396:G561R	ENSP00000362396:G561R	G	+	1	0	STXBP1	129484639	1.000000	0.71417	0.682000	0.30024	0.990000	0.78478	9.731000	0.98807	2.644000	0.89710	0.561000	0.74099	GGA		0.617	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		5	116	0	0	0	1	0	5	116				
ANO2	57101	broad.mit.edu	37	12	5744415	5744415	+	Silent	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:5744415C>G	ENST00000356134.5	-	18	1793	c.1722G>C	c.(1720-1722)cgG>cgC	p.R574R	ANO2_ENST00000327087.8_Silent_p.R573R|ANO2_ENST00000546188.1_Silent_p.R574R|ANO2_ENST00000538154.1_5'Flank	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	578					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCACTGTCACCCGGACATTGG	0.507																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1720-1722)cgG>cgC		anoctamin 2							116.0	117.0	117.0					12																	5744415		2095	4222	6317	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5744415C>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1722G>C	12.37:g.5744415C>G						ANO2_ENST00000327087.8_Silent_p.R573R|ANO2_ENST00000356134.5_Silent_p.R574R	p.R574R			Q9NQ90	ANO2_HUMAN			17	1793	-			578					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1722G>C																																																																																					0.507	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		12	59	0	0	0	1	0	12	59				
NFIL3	4783	broad.mit.edu	37	9	94171722	94171722	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:94171722T>C	ENST00000297689.3	-	2	1689	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	432					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGCTTCAAATACAAGTTCTC	0.403																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(1294-1296)tAt>tGt		nuclear factor, interleukin 3 regulated							123.0	121.0	122.0					9																	94171722		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94171722T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1295A>G	9.37:g.94171722T>C	ENSP00000297689:p.Tyr432Cys						p.Y432C	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1689	-			432					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.1295A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497285	0.26861	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	5.28	2.87	0.33458	Vertebrate interleukin-3 regulated transcription factor (1);	0.087256	0.47852	D	0.000220	T	0.64204	0.2577	L	0.56769	1.78	0.42620	D	0.993343	D	0.55172	0.97	P	0.56398	0.797	T	0.64927	-0.6292	9	0.87932	D	0	-10.466	9.7533	0.40490	0.346:0.0:0.0:0.654	.	432	Q16649	NFIL3_HUMAN	C	432	.	ENSP00000297689:Y432C	Y	-	2	0	NFIL3	93211543	1.000000	0.71417	0.036000	0.18154	0.118000	0.20060	4.096000	0.57734	0.416000	0.25844	0.533000	0.62120	TAT		0.403	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		41	188	0	0	0	1	0	41	188				
LUM	4060	broad.mit.edu	37	12	91502099	91502099	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:91502099T>A	ENST00000266718.4	-	2	1112	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	220					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCATCAGGGATGTTGCTGATC	0.413																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(658-660)Atc>Ttc		lumican							167.0	158.0	161.0					12																	91502099		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502099T>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.658A>T	12.37:g.91502099T>A	ENSP00000266718:p.Ile220Phe					LUM_ENST00000548071.1_Intron	p.I220F	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1112	-			220					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.658A>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814745	0.70912	.	.	ENSG00000139329	ENST00000266718	T	0.65549	-0.16	5.84	4.68	0.58851	.	0.052035	0.85682	D	0.000000	T	0.71558	0.3354	L	0.54908	1.71	0.58432	D	0.999999	D	0.61697	0.99	D	0.65573	0.936	T	0.74194	-0.3744	10	0.87932	D	0	-14.5676	10.8556	0.46798	0.0:0.1282:0.0:0.8718	.	220	P51884	LUM_HUMAN	F	220	ENSP00000266718:I220F	ENSP00000266718:I220F	I	-	1	0	LUM	90026230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	2.230000	0.72887	0.455000	0.32223	ATC		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		36	87	0	0	0	1	0	36	87				
TBC1D2	55357	broad.mit.edu	37	9	100983362	100983362	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:100983362A>C	ENST00000375064.1	-	6	1165	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375066.5_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	376	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCCTCCACCCGCCGGCC	0.697																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1126-1128)gTg>gGg		TBC1 domain family, member 2							20.0	23.0	22.0					9																	100983362		2201	4298	6499	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100983362A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1127T>G	9.37:g.100983362A>C	ENSP00000364205:p.Val376Gly					TBC1D2_ENST00000375064.1_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G|TBC1D2_ENST00000493589.2_Intron	p.V376G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	6	1218	-		Myeloproliferative disorder(762;0.0255)	376			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1127T>G		.	.	.	.	.	.	.	.	.	.	A	18.09	3.547127	0.65311	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.13778	2.56;2.96;2.56	5.41	5.41	0.78517	.	0.161434	0.43260	D	0.000598	T	0.22820	0.0551	M	0.62723	1.935	0.80722	D	1	P;P	0.49559	0.877;0.925	B;P	0.48227	0.368;0.571	T	0.01013	-1.1481	10	0.87932	D	0	.	12.9869	0.58596	1.0:0.0:0.0:0.0	.	376;376	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	G	376;376;158	ENSP00000364205:V376G;ENSP00000364207:V376G;ENSP00000341567:V158G	ENSP00000341567:V158G	V	-	2	0	TBC1D2	100023183	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.040000	0.93783	2.052000	0.61016	0.533000	0.62120	GTG		0.697	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		8	13	0	0	0	1	0	8	13				
ZBTB10	65986	broad.mit.edu	37	8	81411836	81411836	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:81411836A>G	ENST00000430430.1	+	3	1859	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	ZBTB10_ENST00000379091.4_Silent_p.K68K|ZBTB10_ENST00000426744.2_Silent_p.K360K|ZBTB10_ENST00000455036.3_Silent_p.K360K	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGAGAAAGAAAGGTATTCTTT	0.383																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(1078-1080)aaA>aaG		zinc finger and BTB domain containing 10							74.0	75.0	75.0					8																	81411836		1889	4122	6011	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81411836A>G	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1080A>G	8.37:g.81411836A>G						ZBTB10_ENST00000379091.4_Silent_p.K68K|ZBTB10_ENST00000455036.3_Silent_p.K360K|ZBTB10_ENST00000426744.2_Silent_p.K360K	p.K360K	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		3	1859	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		360					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.1080A>G	CCDS47880.1																																																																																				0.383	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		13	95	0	0	0	1	0	13	95				
LAMB2	3913	broad.mit.edu	37	3	49167412	49167412	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:49167412C>T	ENST00000418109.1	-	11	1429	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R422H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	422	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAATCACAGCGACCACCGTC	0.567																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1264-1266)cGc>cAc		laminin, beta 2 (laminin S)							175.0	171.0	172.0					3																	49167412		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167412C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1265G>A	3.37:g.49167412C>T	ENSP00000388325:p.Arg422His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R422H	p.R422H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1429	-			422			Laminin EGF-like 3.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1265G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514498	0.64522	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62232	0.04;0.04	5.56	2.42	0.29668	EGF-like, laminin (3);	0.439110	0.24592	N	0.037204	T	0.36386	0.0965	N	0.20445	0.575	0.29231	N	0.873262	P	0.47034	0.889	B	0.39660	0.306	T	0.24404	-1.0161	10	0.14656	T	0.56	.	3.7388	0.08521	0.4927:0.3106:0.1113:0.0853	.	422	P55268	LAMB2_HUMAN	H	422	ENSP00000388325:R422H;ENSP00000307156:R422H	ENSP00000307156:R422H	R	-	2	0	LAMB2	49142416	0.624000	0.27102	0.999000	0.59377	0.985000	0.73830	3.281000	0.51685	0.666000	0.31087	0.655000	0.94253	CGC		0.567	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		76	84	0	0	0	1	0	76	84				
DECR1	1666	broad.mit.edu	37	8	91033151	91033151	+	Silent	SNP	T	T	C	rs137904244	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:91033151T>C	ENST00000220764.2	+	5	520	c.432T>C	c.(430-432)aaT>aaC	p.N144N	DECR1_ENST00000522161.1_Silent_p.N135N|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	144					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGATAAACAATGCAGCAGGGA	0.348													T|||	3	0.000599042	0.0	0.0	5008	,	,		16945	0.0		0.002	False		,,,				2504	0.001					ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(403-405)aaT>aaC		2,4-dienoyl CoA reductase 1, mitochondrial		T		0,4406		0,0,2203	71.0	70.0	70.0		432	-1.5	1.0	8	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DECR1	NM_001359.1		0,3,6500	CC,CT,TT		0.0349,0.0,0.0231		144/336	91033151	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91033151T>C	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.432T>C	8.37:g.91033151T>C						DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Silent_p.N144N	p.N135N			Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		7	1088	+			144					B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	c.405T>C	CCDS6250.1																																																																																				0.348	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			44	62	0	0	0	1	0	44	62				
IGHG1	3500	broad.mit.edu	37	14	106208309	106208309	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:106208309C>T	ENST00000390548.2	-	0	590							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGCCATTCAGCCAGTCCT	0.592																																						ENST00000390548.2																			0																				256.0	249.0	252.0					14																	106208309		2180	4273	6453			3500							g.chr14:106208309C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208309C>T														0	590	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		129	382	0	0	0	1	0	129	382				
BHLHE23	128408	broad.mit.edu	37	20	61637728	61637728	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:61637728G>T	ENST00000370346.2	-	1	659	c.351C>A	c.(349-351)aaC>aaA	p.N117K		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	117	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						CCAGCGCGTCGTTTAGGTCGT	0.711																																						ENST00000370346.2																			0				NS(1)	1						c.(349-351)aaC>aaA		basic helix-loop-helix family, member e23							15.0	14.0	15.0					20																	61637728		2194	4289	6483	SO:0001583	missense	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637728G>T	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.351C>A	20.37:g.61637728G>T	ENSP00000359371:p.Asn117Lys						p.N117K	NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN			1	659	-			117			Helix-loop-helix motif.		B2RP69	Missense_Mutation	SNP	ENST00000370346.2	37	c.351C>A	CCDS33507.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060854	0.76074	.	.	ENSG00000125533	ENST00000370346	D	0.99298	-5.71	3.2	3.2	0.36748	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.99486	0.9817	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	-16.1776	7.642	0.28298	0.1231:0.0:0.8769:0.0	.	117	Q8NDY6	BHE23_HUMAN	K	117	ENSP00000359371:N117K	ENSP00000359371:N117K	N	-	3	2	BHLHE23	61108173	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.884000	0.63135	1.309000	0.44985	0.491000	0.48974	AAC		0.711	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		8	28	1	0	0.00307968	1	0.00319374	8	28				
NLRP5	126206	broad.mit.edu	37	19	56539103	56539103	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:56539103C>G	ENST00000390649.3	+	7	1504	c.1504C>G	c.(1504-1506)Cac>Gac	p.H502D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	502	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACAGGCCTGCACGCCGCTTT	0.637																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1504-1506)Cac>Gac		NLR family, pyrin domain containing 5							33.0	35.0	34.0					19																	56539103		2122	4223	6345	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539103C>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1504C>G	19.37:g.56539103C>G	ENSP00000375063:p.His502Asp						p.H502D	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1504	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	502			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1504C>G	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256820	0.22965	.	.	ENSG00000171487	ENST00000390649	T	0.71698	-0.59	2.98	2.98	0.34508	.	0.244896	0.21529	N	0.073080	T	0.49115	0.1538	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43360	-0.9396	10	0.87932	D	0	.	5.0483	0.14496	0.0:0.1393:0.0:0.8607	.	502	P59047	NALP5_HUMAN	D	502	ENSP00000375063:H502D	ENSP00000375063:H502D	H	+	1	0	NLRP5	61230915	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	0.748000	0.26305	0.545000	0.28902	-0.361000	0.07541	CAC		0.637	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		11	36	0	0	0	1	0	11	36				
TP53	7157	broad.mit.edu	37	17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578254C>A	ENST00000269305.4	-	6	784	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000420246.2_Nonsense_Mutation_p.G199*|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCAAATTTCCTTCCACTCGG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Substitution - Missense(9)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)	central_nervous_system(6)|biliary_tract(5)|bone(4)|oesophagus(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)|large_intestine(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(595-597)Gga>Tga	Other conserved DNA damage response genes	tumor protein p53							117.0	104.0	108.0					17																	7578254		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578254C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.595G>T	17.37:g.7578254C>A	ENSP00000269305:p.Gly199*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron	p.G199*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	727	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	199		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.595G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620630	0.46736	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	4.32	0.51571	.	0.052866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2871	12.0218	0.53348	0.0:0.9154:0.0:0.0846	.	.	.	.	X	199;199;199;199;199;199;188;106;67;106;67	.	ENSP00000269305:G199X	G	-	1	0	TP53	7518979	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	7.775000	0.85489	1.374000	0.46228	-0.253000	0.11424	GGA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	45	1	0	1.99824e-07	1	2.23802e-07	16	45				
TRIP12	9320	broad.mit.edu	37	2	230655844	230655844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:230655844C>T	ENST00000283943.5	-	29	4492	c.4314G>A	c.(4312-4314)tgG>tgA	p.W1438*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.W1486*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.W1168*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1438					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCTTACCGTGCCATAACTCAT	0.373																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4312-4314)tgG>tgA		thyroid hormone receptor interactor 12							192.0	177.0	182.0					2																	230655844		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230655844C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4314G>A	2.37:g.230655844C>T	ENSP00000283943:p.Trp1438*					TRIP12_ENST00000389044.4_Nonsense_Mutation_p.W1486*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.W1168*	p.W1438*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	29	4492	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1438					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.4314G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	45	11.740648	0.99597	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	X	1438;1168;1486	.	ENSP00000283943:W1438X	W	-	3	0	TRIP12	230364088	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.448000	0.80631	2.805000	0.96524	0.655000	0.94253	TGG		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		46	131	0	0	0	1	0	46	131				
PSG7	5676	broad.mit.edu	37	19	43428907	43428907	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:43428907C>T	ENST00000406070.2	-	0	1409				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				cagagtgggtcttgctctttg	0.418																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							72.0	74.0	73.0					19																	43428907		692	1591	2283			5676				female pregnancy	extracellular region		g.chr19:43428907C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428907C>T								NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1409	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.418	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	58	0	0	0	1	0	13	58				
DPY19L2P2	349152	broad.mit.edu	37	7	102912287	102912287	+	RNA	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912287A>G	ENST00000312132.4	-	0	2292							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGCTTCAATAATGGTCTTGA	0.279																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912287A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912287A>G														0	2292	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.279	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	76	0	0	0	1	0	4	76				
GHITM	27069	broad.mit.edu	37	10	85909964	85909964	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:85909964G>A	ENST00000372134.3	+	7	939	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	249					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GCACCCCTGGGAGTGGGCCTG	0.507																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(745-747)gGa>gAa		growth hormone inducible transmembrane protein							107.0	118.0	114.0					10																	85909964		1964	4144	6108	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85909964G>A	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.746G>A	10.37:g.85909964G>A	ENSP00000361207:p.Gly249Glu						p.G249E	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			7	939	+			249					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.746G>A	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658749	0.88154	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	T	0.42131	0.98	6.03	6.03	0.97812	.	0.053344	0.85682	D	0.000000	T	0.51126	0.1656	L	0.47716	1.5	0.50813	D	0.999897	P;P	0.48998	0.889;0.918	P;P	0.52514	0.659;0.701	T	0.38908	-0.9639	10	0.45353	T	0.12	-7.4256	17.4736	0.87653	0.0:0.0:1.0:0.0	.	180;249	B4DNL0;Q9H3K2	.;GHITM_HUMAN	E	249;236;249;229	ENSP00000361207:G249E	ENSP00000342214:G229E	G	+	2	0	GHITM	85899944	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.428000	0.73383	2.861000	0.98227	0.655000	0.94253	GGA		0.507	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		15	41	0	0	0	1	0	15	41				
STAT5B	6777	broad.mit.edu	37	17	40370209	40370209	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:40370209G>T	ENST00000293328.3	-	9	1297	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	377					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTGGCCTGCTGCTCACTGATG	0.562																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1129-1131)Cag>Aag		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						116.0	91.0	99.0					17																	40370209		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370209G>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1129C>A	17.37:g.40370209G>T	ENSP00000293328:p.Gln377Lys						p.Q377K	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1297	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	377					Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1129C>A	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989113	0.53934	.	.	ENSG00000173757	ENST00000293328	D	0.86497	-2.13	5.41	4.44	0.53790	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.051618	0.85682	D	0.000000	T	0.77651	0.4162	N	0.19112	0.55	0.54753	D	0.999982	B;B	0.17465	0.002;0.022	B;B	0.24394	0.012;0.053	T	0.70547	-0.4842	10	0.10902	T	0.67	-4.5993	14.4549	0.67409	0.0705:0.0:0.9295:0.0	.	377;377	Q8WW55;P51692	.;STA5B_HUMAN	K	377	ENSP00000293328:Q377K	ENSP00000293328:Q377K	Q	-	1	0	STAT5B	37623735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.524000	0.98036	1.518000	0.48934	0.561000	0.74099	CAG		0.562	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		16	28	1	0	3.45872e-05	1	3.67762e-05	16	28				
MRGPRX1	259249	broad.mit.edu	37	11	18956130	18956130	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:18956130A>T	ENST00000302797.3	-	1	426	c.202T>A	c.(202-204)Ttg>Atg	p.L68M	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	68					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGCGGCCAAGTTGAGGATG	0.537																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(202-204)Ttg>Atg		MAS-related GPR, member X1							134.0	132.0	133.0					11																	18956130		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956130A>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.202T>A	11.37:g.18956130A>T	ENSP00000305766:p.Leu68Met					MRGPRX1_ENST00000526914.1_5'UTR	p.L68M	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	426	-			68					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.202T>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.599294	0.46318	.	.	ENSG00000170255	ENST00000302797	D	0.91124	-2.79	2.43	-0.717	0.11208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	D	0.95059	0.8400	M	0.93328	3.405	0.24440	N	0.994531	D	0.89917	1.0	D	0.91635	0.999	D	0.88356	0.2984	10	0.87932	D	0	.	6.9259	0.24414	0.377:0.0:0.623:0.0	.	68	Q96LB2	MRGX1_HUMAN	M	68	ENSP00000305766:L68M	ENSP00000305766:L68M	L	-	1	2	MRGPRX1	18912706	1.000000	0.71417	0.003000	0.11579	0.030000	0.12068	0.623000	0.24447	-0.171000	0.10797	-0.374000	0.07098	TTG		0.537	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	209	0	0	0	1	0	6	209				
RYR2	6262	broad.mit.edu	37	1	237791330	237791330	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:237791330G>C	ENST00000366574.2	+	41	6707	c.6390G>C	c.(6388-6390)ctG>ctC	p.L2130L	RYR2_ENST00000542537.1_Silent_p.L2114L|RYR2_ENST00000360064.6_Silent_p.L2128L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2130	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCCCTGCTGAGTGTGAGAA	0.458																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6388-6390)ctG>ctC		ryanodine receptor 2 (cardiac)							104.0	113.0	110.0					1																	237791330		1991	4166	6157	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791330G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6390G>C	1.37:g.237791330G>C						RYR2_ENST00000360064.6_Silent_p.L2128L|RYR2_ENST00000542537.1_Silent_p.L2114L	p.L2130L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6707	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2130			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6390G>C	CCDS55691.1																																																																																				0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	32	0	0	0	1	0	18	32				
PLCL1	5334	broad.mit.edu	37	2	198950676	198950676	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:198950676A>T	ENST00000428675.1	+	2	2833	c.2435A>T	c.(2434-2436)tAt>tTt	p.Y812F	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y714F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	812	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGGGCAATATACGATACCA	0.438																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2434-2436)tAt>tTt		phospholipase C-like 1	Quinacrine(DB01103)						203.0	185.0	191.0					2																	198950676		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950676A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2435A>T	2.37:g.198950676A>T	ENSP00000402861:p.Tyr812Phe					PLCL1_ENST00000437704.2_Missense_Mutation_p.Y714F	p.Y812F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2833	+			812			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2435A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982948	0.53827	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.68331	-0.32;-0.32	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.209723	0.34088	N	0.004277	T	0.75788	0.3897	L	0.53671	1.685	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.974	T	0.75127	-0.3427	9	.	.	.	.	10.8822	0.46946	0.9275:0.0:0.0725:0.0	.	812;738	Q15111;B4DYZ4	PLCL1_HUMAN;.	F	812;714	ENSP00000402861:Y812F;ENSP00000414138:Y714F	.	Y	+	2	0	PLCL1	198658921	1.000000	0.71417	0.419000	0.26584	0.947000	0.59692	7.335000	0.79234	2.308000	0.77769	0.533000	0.62120	TAT		0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		43	91	0	0	0	1	0	43	91				
ST8SIA5	29906	broad.mit.edu	37	18	44272161	44272161	+	Silent	SNP	C	C	T	rs371174943		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:44272161C>T	ENST00000315087.7	-	3	942	c.282G>A	c.(280-282)gcG>gcA	p.A94A	ST8SIA5_ENST00000536490.1_Silent_p.A63A|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.A130A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGATGTTCATCGCCCATTTGC	0.517																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(280-282)gcG>gcA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5		C		1,4405	2.1+/-5.4	0,1,2202	233.0	154.0	181.0		282	-6.3	0.7	18		181	0,8600		0,0,4300	no	coding-synonymous	ST8SIA5	NM_013305.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		94/377	44272161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44272161C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.282G>A	18.37:g.44272161C>T						ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.A130A|ST8SIA5_ENST00000536490.1_Silent_p.A63A	p.A94A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			3	942	-			94					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.282G>A	CCDS11930.1																																																																																				0.517	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		14	61	0	0	0	1	0	14	61				
KEAP1	9817	broad.mit.edu	37	19	10600002	10600002	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10600002T>C	ENST00000171111.5	-	5	2121	c.1574A>G	c.(1573-1575)tAt>tGt	p.Y525C	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.Y525C|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	525					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CTGACCATCATAGCCCCCAGC	0.597																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1573-1575)tAt>tGt		kelch-like ECH-associated protein 1							76.0	58.0	64.0					19																	10600002		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600002T>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1574A>G	19.37:g.10600002T>C	ENSP00000171111:p.Tyr525Cys					KEAP1_ENST00000393623.2_Missense_Mutation_p.Y525C	p.Y525C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	2121	-			525					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1574A>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405638	0.62288	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77229	-1.08;-1.08	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.123265	0.56097	D	0.000026	D	0.85957	0.5818	M	0.64170	1.965	0.51012	D	0.999904	D	0.89917	1.0	D	0.97110	1.0	D	0.86649	0.1897	10	0.56958	D	0.05	.	14.01	0.64490	0.0:0.0:0.0:1.0	.	525	Q14145	KEAP1_HUMAN	C	525	ENSP00000171111:Y525C;ENSP00000377245:Y525C	ENSP00000171111:Y525C	Y	-	2	0	KEAP1	10461002	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	5.540000	0.67205	2.200000	0.70718	0.477000	0.44152	TAT		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		11	36	0	0	0	1	0	11	36				
CTSL	1514	broad.mit.edu	37	9	90343215	90343215	+	Silent	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:90343215C>A	ENST00000343150.5	+	4	1190	c.300C>A	c.(298-300)ccC>ccA	p.P100P	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.P100P|CTSL_ENST00000340342.6_Silent_p.P100P			P07711	CATL1_HUMAN	cathepsin L	100					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										ACCGTAAGCCCAGGAAGGGGA	0.443																																						ENST00000343150.5																			0											c.(298-300)ccC>ccA		cathepsin L							89.0	89.0	89.0					9																	90343215		2203	4300	6503	SO:0001819	synonymous_variant	1514							g.chr9:90343215C>A	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.300C>A	9.37:g.90343215C>A						CTSL_ENST00000342020.5_Silent_p.P100P|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Silent_p.P100P	p.P100P							4	1190	+								Q6IAV1|Q96QJ0	Silent	SNP	ENST00000343150.5	37	c.300C>A	CCDS6675.1																																																																																				0.443	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		19	108	1	0	1.00905e-13	1	1.1938e-13	19	108				
NRXN1	9378	broad.mit.edu	37	2	51255184	51255184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51255184G>T	ENST00000406316.2	-	2	1704	c.228C>A	c.(226-228)tgC>tgA	p.C76*	NRXN1_ENST00000406859.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405581.1_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.C76*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	76	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGAAGTCGCAGAAGCCCT	0.652																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(226-228)tgC>tgA		neurexin 1							15.0	20.0	18.0					2																	51255184		2006	4171	6177	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255184G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.228C>A	2.37:g.51255184G>T	ENSP00000384311:p.Cys76*					NRXN1_ENST00000406316.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405581.1_Nonsense_Mutation_p.C76*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.C76*	p.C76*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1567	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	76			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.228C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	46	12.926689	0.99707	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	.	.	.	4.97	2.79	0.32731	.	0.000000	0.28527	U	0.015028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.6983	0.45911	0.2434:0.0:0.7566:0.0	.	.	.	.	X	76	.	ENSP00000385017:C76X	C	-	3	2	NRXN1	51108688	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.864000	0.27926	1.083000	0.41159	0.563000	0.77884	TGC		0.652	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			14	22	1	0	1.3612e-06	1	1.49465e-06	14	22				
FAM90A1	55138	broad.mit.edu	37	12	8374480	8374480	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:8374480C>T	ENST00000538603.1	-	7	1891	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	FAM90A1_ENST00000307435.6_Missense_Mutation_p.V445I|RP11-266K4.1_ENST00000542600.1_RNA	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	445							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCATAGAGGACGCTTGGTGGG	0.602																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1333-1335)Gtc>Atc		family with sequence similarity 90, member A1							36.0	47.0	43.0					12																	8374480		1652	3125	4777	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374480C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1333G>A	12.37:g.8374480C>T	ENSP00000445418:p.Val445Ile					FAM90A1_ENST00000307435.6_Missense_Mutation_p.V445I	p.V445I	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1891	-			445					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.1333G>A	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.500115	0.26861	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.14893	2.47;2.47	1.06	0.0652	0.14356	.	.	.	.	.	T	0.16428	0.0395	N	0.16266	0.395	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.13442	-1.0509	9	0.59425	D	0.04	-14.4902	3.1941	0.06628	0.0:0.6714:0.0:0.3286	.	445	Q86YD7	F90A1_HUMAN	I	445	ENSP00000307798:V445I;ENSP00000445418:V445I	ENSP00000307798:V445I	V	-	1	0	FAM90A1	8265747	0.012000	0.17670	0.004000	0.12327	0.008000	0.06430	0.265000	0.18515	0.005000	0.14708	0.205000	0.17691	GTC		0.602	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		7	111	0	0	0	1	0	7	111				
WDR63	126820	broad.mit.edu	37	1	85550274	85550274	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:85550274C>T	ENST00000294664.6	+	6	616	c.436C>T	c.(436-438)Cct>Tct	p.P146S	WDR63_ENST00000326813.8_Missense_Mutation_p.P146S|WDR63_ENST00000370596.1_Missense_Mutation_p.P146S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	146										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGAACATATTCCTGAAGATGT	0.343																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(436-438)Cct>Tct		WD repeat domain 63							82.0	87.0	85.0					1																	85550274		2203	4298	6501	SO:0001583	missense	126820							g.chr1:85550274C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.436C>T	1.37:g.85550274C>T	ENSP00000294664:p.Pro146Ser					WDR63_ENST00000326813.8_Missense_Mutation_p.P146S|WDR63_ENST00000370596.1_Missense_Mutation_p.P146S	p.P146S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	6	616	+			146					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.436C>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007153	0.07773	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.41065	1.01;1.01;1.01	5.57	-3.27	0.05048	.	1.473130	0.03458	N	0.211769	T	0.10937	0.0267	L	0.52364	1.645	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.006	T	0.07028	-1.0794	10	0.10902	T	0.67	-19.7472	2.2549	0.04052	0.3286:0.3348:0.2081:0.1285	.	146;146	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	S	146	ENSP00000359628:P146S;ENSP00000317463:P146S;ENSP00000294664:P146S	ENSP00000294664:P146S	P	+	1	0	WDR63	85322862	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-1.046000	0.03525	-0.185000	0.10550	-0.218000	0.12543	CCT		0.343	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		32	74	0	0	0	1	0	32	74				
HBD	3045	broad.mit.edu	37	11	5254302	5254302	+	Silent	SNP	C	C	A	rs143576561	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5254302C>A	ENST00000380299.3	-	3	550	c.336G>T	c.(334-336)gtG>gtT	p.V112V	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	112					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACACACACCAGCACAT	0.517																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(334-336)gtG>gtT		hemoglobin, delta							115.0	95.0	102.0					11																	5254302		2201	4298	6499	SO:0001819	synonymous_variant	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254302C>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.336G>T	11.37:g.5254302C>A						HBD_ENST00000292901.3_Intron	p.V112V	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	550	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	112					Q3Y5H3|Q8WXT7	Silent	SNP	ENST00000380299.3	37	c.336G>T	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	c	0.569	-0.841790	0.02671	.	.	ENSG00000223609	ENST00000417377	D	0.88664	-2.41	4.81	2.78	0.32641	.	.	.	.	.	D	0.88537	0.6463	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.81070	-0.1099	6	0.62326	D	0.03	-1.5939	9.5873	0.39524	0.3825:0.6175:0.0:0.0	.	.	.	.	F	38	ENSP00000414741:C38F	ENSP00000414741:C38F	C	-	2	0	HBD	5210878	0.002000	0.14202	0.006000	0.13384	0.048000	0.14542	0.222000	0.17699	1.366000	0.46076	0.655000	0.94253	TGT		0.517	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		23	72	1	0	6.44725e-10	1	7.41876e-10	23	72				
KDSR	2531	broad.mit.edu	37	18	61002491	61002491	+	Splice_Site	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:61002491T>G	ENST00000406396.3	-	9	1269	c.878A>C	c.(877-879)cAg>cCg	p.Q293P	KDSR_ENST00000589592.1_5'UTR|KDSR_ENST00000326575.5_Splice_Site_p.Q229P	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	293					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGAGCTTACCTGCTGGAGCCC	0.488																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.e9+1		3-ketodihydrosphingosine reductase							57.0	56.0	56.0					18																	61002491		2203	4300	6503	SO:0001630	splice_region_variant	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61002491T>G		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.879+1A>C	18.37:g.61002491T>G						KDSR_ENST00000589592.1_5'UTR|KDSR_ENST00000326575.5_Splice_Site_p.Q229_splice	p.Q293_splice	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			9	1269	-			293					B2R5Y1|B4DMX0	Splice_Site	SNP	ENST00000406396.3	37	c.879_splice	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309098	0.81247	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;T	0.87412	-2.25;-1.08	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	M	0.87456	2.885	0.80722	D	1	P;D	0.71674	0.612;0.998	B;D	0.63703	0.121;0.917	D	0.93672	0.6991	10	0.66056	D	0.02	.	11.147	0.48436	0.0:0.0711:0.0:0.9289	.	229;293	B4DMX0;Q06136	.;KDSR_HUMAN	P	293;229	ENSP00000385083:Q293P;ENSP00000312939:Q229P	ENSP00000312939:Q229P	Q	-	2	0	KDSR	59153471	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.229000	0.72294	2.201000	0.70794	0.533000	0.62120	CAG		0.488	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2		Missense_Mutation	14	31	0	0	0	1	0	14	31				
DSCAM	1826	broad.mit.edu	37	21	41514551	41514551	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr21:41514551T>C	ENST00000400454.1	-	18	3817	c.3340A>G	c.(3340-3342)Aag>Gag	p.K1114E		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1114	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGGCTTCCTTGGAAAGTGTG	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3340-3342)Aag>Gag		Down syndrome cell adhesion molecule							167.0	153.0	158.0					21																	41514551		1853	4097	5950	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514551T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3340A>G	21.37:g.41514551T>C	ENSP00000383303:p.Lys1114Glu						p.K1114E	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3817	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1114			Fibronectin type-III 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3340A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	8.698	0.909034	0.17833	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57907	0.37;0.48	5.21	5.21	0.72293	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.224365	0.46145	D	0.000317	T	0.29288	0.0729	N	0.05199	-0.095	0.33591	D	0.6011	B	0.27625	0.183	B	0.28385	0.089	T	0.30149	-0.9988	10	0.02654	T	1	.	15.4292	0.75077	0.0:0.0:0.0:1.0	.	1114	O60469	DSCAM_HUMAN	E	1114;866	ENSP00000383303:K1114E;ENSP00000385342:K866E	ENSP00000383303:K1114E	K	-	1	0	DSCAM	40436421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.087000	0.62958	0.524000	0.50904	AAG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		43	90	0	0	0	1	0	43	90				
PLK3	1263	broad.mit.edu	37	1	45269865	45269865	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:45269865T>A	ENST00000372201.4	+	11	1528	c.1289T>A	c.(1288-1290)gTa>gAa	p.V430E	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	430					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTGGCCACAGTAGTGGAGTCA	0.557																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1288-1290)gTa>gAa		polo-like kinase 3							128.0	120.0	123.0					1																	45269865		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269865T>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1289T>A	1.37:g.45269865T>A	ENSP00000361275:p.Val430Glu					PLK3_ENST00000465443.1_3'UTR	p.V430E	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			11	1528	+	Acute lymphoblastic leukemia(166;0.155)		430					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1289T>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.358000	0.61403	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.68765	-0.35	4.55	4.55	0.56014	.	.	.	.	.	T	0.56396	0.1982	L	0.52364	1.645	0.53688	D	0.999979	B	0.25563	0.129	B	0.22753	0.041	T	0.51934	-0.8642	9	0.08599	T	0.76	-14.226	13.2208	0.59885	0.0:0.0:0.0:1.0	.	430	Q9H4B4	PLK3_HUMAN	E	430;405	ENSP00000361275:V430E	ENSP00000361275:V430E	V	+	2	0	PLK3	45042452	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.952000	0.75989	1.917000	0.55516	0.482000	0.46254	GTA		0.557	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		44	79	0	0	0	1	0	44	79				
GPR21	2844	broad.mit.edu	37	9	125797596	125797596	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:125797596G>T	ENST00000373642.1	+	1	791	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	251					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TAAGCGCTATGCCATGGTCCT	0.512																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(751-753)Gcc>Tcc		G protein-coupled receptor 21							176.0	156.0	163.0					9																	125797596		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797596G>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.751G>T	9.37:g.125797596G>T	ENSP00000362746:p.Ala251Ser					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	p.A251S	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	791	+			251					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.751G>T	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487454	0.63962	.	.	ENSG00000188394	ENST00000373642	T	0.74315	-0.83	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	D	0.84370	0.5457	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84012	0.0349	10	0.62326	D	0.03	-12.3689	20.3495	0.98807	0.0:0.0:1.0:0.0	.	251	Q99679	GPR21_HUMAN	S	251	ENSP00000362746:A251S	ENSP00000362746:A251S	A	+	1	0	GPR21	124837417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.814000	0.96858	0.591000	0.81541	GCC		0.512	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		88	129	1	0	1.37074e-43	1	1.71854e-43	88	129				
ABCC4	10257	broad.mit.edu	37	13	95727694	95727694	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:95727694A>G	ENST00000376887.4	-	22	2912	c.2798T>C	c.(2797-2799)tTa>tCa	p.L933S	ABCC4_ENST00000412704.1_Missense_Mutation_p.L886S|ABCC4_ENST00000474158.1_5'Flank	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	933	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACCTGAATGTAAATCCTGGTG	0.483																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2797-2799)tTa>tCa		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						165.0	146.0	153.0					13																	95727694		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95727694A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2798T>C	13.37:g.95727694A>G	ENSP00000366084:p.Leu933Ser					ABCC4_ENST00000412704.1_Missense_Mutation_p.L886S	p.L933S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			22	2912	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		933			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2798T>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311843	0.81358	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.88818	-2.43;-2.43	5.39	5.39	0.77823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063905	0.64402	D	0.000008	D	0.92509	0.7621	M	0.76328	2.33	0.80722	D	1	B;D	0.53151	0.321;0.958	B;P	0.55749	0.205;0.783	D	0.93021	0.6440	10	0.56958	D	0.05	.	15.4116	0.74929	1.0:0.0:0.0:0.0	.	886;933	O15439-2;O15439	.;MRP4_HUMAN	S	886;933	ENSP00000388657:L886S;ENSP00000366084:L933S	ENSP00000366084:L933S	L	-	2	0	ABCC4	94525695	1.000000	0.71417	0.896000	0.35187	0.973000	0.67179	8.932000	0.92897	2.029000	0.59856	0.460000	0.39030	TTA		0.483	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		60	113	0	0	0	1	0	60	113				
DPY19L2P2	349152	broad.mit.edu	37	7	102912302	102912302	+	RNA	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912302A>G	ENST00000312132.4	-	0	2277							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTTGAAGTAAGAATAATAAA	0.269																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912302A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912302A>G														0	2277	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.269	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	72	0	0	0	1	0	6	72				
LEMD3	23592	broad.mit.edu	37	12	65633925	65633925	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:65633925G>A	ENST00000308330.2	+	8	2059	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	678					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATGTTTTACGAAGTCATAAT	0.328																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2032-2034)cGa>cAa		LEM domain containing 3							94.0	92.0	93.0					12																	65633925		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65633925G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2033G>A	12.37:g.65633925G>A	ENSP00000308369:p.Arg678Gln						p.R678Q	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	8	2059	+			678					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2033G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879739	0.51801	.	.	ENSG00000174106	ENST00000308330	T	0.45668	0.89	5.03	5.03	0.67393	Inner nuclear membrane protein MAN1 (1);	0.116646	0.56097	D	0.000033	T	0.27731	0.0682	L	0.35414	1.06	0.54753	D	0.999986	P	0.38420	0.63	B	0.29353	0.101	T	0.05451	-1.0884	9	.	.	.	-6.0407	12.6249	0.56623	0.0774:0.0:0.9226:0.0	.	678	Q9Y2U8	MAN1_HUMAN	Q	678	ENSP00000308369:R678Q	.	R	+	2	0	LEMD3	63920192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.305000	0.59110	2.706000	0.92434	0.591000	0.81541	CGA		0.328	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			28	76	0	0	0	1	0	28	76				
CACNA2D1	781	broad.mit.edu	37	7	81635108	81635108	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:81635108A>T	ENST00000356253.5	-	17	1743	c.1488T>A	c.(1486-1488)gaT>gaA	p.D496E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D496E|CACNA2D1_ENST00000464354.1_5'UTR			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	496	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCTTTTAATATCTTCCAAAG	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1486-1488)gaT>gaA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						124.0	118.0	120.0					7																	81635108		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81635108A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1488T>A	7.37:g.81635108A>T	ENSP00000348589:p.Asp496Glu					CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D496E	p.D496E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			17	1826	-			496			Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1488T>A		.	.	.	.	.	.	.	.	.	.	A	5.758	0.324190	0.10900	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.05319	3.46;3.51	5.48	-0.42	0.12336	.	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.11341	0.13	0.80722	D	1	B	0.15719	0.014	B	0.21708	0.036	T	0.48175	-0.9058	10	0.02654	T	1	-16.1793	6.2087	0.20617	0.4636:0.0:0.4105:0.1259	.	496	P54289-2	.	E	496	ENSP00000349320:D496E;ENSP00000348589:D496E	ENSP00000284088:D496E	D	-	3	2	CACNA2D1	81473044	0.965000	0.33210	0.997000	0.53966	0.981000	0.71138	0.137000	0.15995	-0.156000	0.11079	-0.326000	0.08463	GAT		0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				34	85	0	0	0	1	0	34	85				
UGGT1	56886	broad.mit.edu	37	2	128910376	128910376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:128910376C>T	ENST00000259253.6	+	19	2082	c.2035C>T	c.(2035-2037)Caa>Taa	p.Q679*	UGGT1_ENST00000375990.3_Nonsense_Mutation_p.Q655*	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	679					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCCCATGATCAAGATGTGGT	0.388																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1963-1965)Caa>Taa		UDP-glucose glycoprotein glucosyltransferase 1							118.0	110.0	113.0					2																	128910376		2203	4300	6503	SO:0001587	stop_gained	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128910376C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2035C>T	2.37:g.128910376C>T	ENSP00000259253:p.Gln679*					UGGT1_ENST00000259253.6_Nonsense_Mutation_p.Q679*	p.Q655*			Q9NYU2	UGGG1_HUMAN			19	2366	+			679					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	ENST00000259253.6	37	c.1963C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963218	0.97967	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	.	.	.	6.06	6.06	0.98353	.	0.091610	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	655;679	.	.	Q	+	1	0	UGGT1	128626846	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	7.403000	0.79983	2.880000	0.98712	0.650000	0.86243	CAA		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		37	130	0	0	0	1	0	37	130				
NRROS	375387	broad.mit.edu	37	3	196387701	196387701	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:196387701G>A	ENST00000328557.4	+	3	1390	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	396					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTGGCTCCGGGGCTGGCCAGC	0.657																																						ENST00000328557.4																			0											c.(1186-1188)gGg>gAg		negative regulator of reactive oxygen species							43.0	50.0	47.0					3																	196387701		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387701G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1187G>A	3.37:g.196387701G>A	ENSP00000328625:p.Gly396Glu						p.G396E	NM_198565.1	NP_940967.1					3	1390	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1187G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	8.881	0.951690	0.18431	.	.	ENSG00000174004	ENST00000328557	T	0.01015	5.44	6.17	3.45	0.39498	.	0.623425	0.17536	N	0.170682	T	0.00936	0.0031	N	0.21324	0.655	0.09310	N	0.999998	B	0.21452	0.056	B	0.26202	0.067	T	0.48410	-0.9038	10	0.36615	T	0.2	.	8.5817	0.33632	0.2843:0.0:0.7157:0.0	.	396	Q86YC3	LRC33_HUMAN	E	396	ENSP00000328625:G396E	ENSP00000328625:G396E	G	+	2	0	LRRC33	197872098	0.992000	0.36948	0.031000	0.17742	0.007000	0.05969	2.518000	0.45537	0.954000	0.37851	0.655000	0.94253	GGG		0.657	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		28	111	0	0	0	1	0	28	111				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	205	0	0	0	1	0	5	205				
CXCR4	7852	broad.mit.edu	37	2	136873272	136873272	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:136873272A>T	ENST00000241393.3	-	2	330	c.226T>A	c.(226-228)Tac>Aac	p.Y76N	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.Y80N	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	76					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGCAGCCTGTACTTGTCCGTC	0.507																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(238-240)Tac>Aac		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						186.0	177.0	180.0					2																	136873272		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873272A>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.226T>A	2.37:g.136873272A>T	ENSP00000241393:p.Tyr76Asn					CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.Y76N	p.Y80N	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	541	-			76					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.238T>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853427	0.71719	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.75704	-0.96;-0.96	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94570	0.7770	10	0.87932	D	0	.	15.9544	0.79871	1.0:0.0:0.0:0.0	.	76;80	P61073;P61073-2	CXCR4_HUMAN;.	N	80;76	ENSP00000386884:Y80N;ENSP00000241393:Y76N	ENSP00000241393:Y76N	Y	-	1	0	CXCR4	136589742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.170000	0.68504	0.533000	0.62120	TAC		0.507	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			54	40	0	0	0	1	0	54	40				
CLCC1	23155	broad.mit.edu	37	1	109477344	109477345	+	Frame_Shift_Ins	INS	-	-	T	rs138000506		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:109477344_109477345insT	ENST00000369971.2	-	11	1732_1733	c.1603_1604insA	c.(1603-1605)agafs	p.R535fs	CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.R350fs|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.R535fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.R350fs|CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.R485fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	535						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCCACACCTCTTGCGGGGCTG	0.589																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1603-1605)aggfs		chloride channel CLIC-like 1																																				SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477344_109477345insT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1604dupA	1.37:g.109477346_109477346dupT	ENSP00000358988:p.Arg535fs					AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.R350fs|CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.R535fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.R350fs	p.R535fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1732_1733	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	535					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Ins	INS	ENST00000369971.2	37	c.1603_1604insA	CCDS41362.1																																																																																				0.589	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		35	107						35	107	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615117	158615117	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158615117C>A	ENST00000368147.4	-	29	4235	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1352					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTTCTGCACTGAAGTCCTC	0.507																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4054-4056)aGt>aTt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							84.0	80.0	81.0					1																	158615117		1922	4142	6064	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615117C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4055G>T	1.37:g.158615117C>A	ENSP00000357129:p.Ser1352Ile					SPTA1_ENST00000368147.3_Missense_Mutation_p.S1352I	p.S1352I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			29	4235	-	all_hematologic(112;0.0378)		1352					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4055G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738655	0.49045	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35421	1.31;1.31	4.66	3.74	0.42951	.	.	.	.	.	T	0.12603	0.0306	N	0.19112	0.55	0.28563	N	0.911022	B	0.13594	0.008	B	0.12156	0.007	T	0.29518	-1.0009	9	0.87932	D	0	.	13.9165	0.63902	0.0:0.8461:0.1539:0.0	.	1352	P02549	SPTA1_HUMAN	I	1352	ENSP00000357130:S1352I;ENSP00000357129:S1352I	ENSP00000357129:S1352I	S	-	2	0	SPTA1	156881741	1.000000	0.71417	0.021000	0.16686	0.928000	0.56348	5.358000	0.66064	1.299000	0.44798	0.650000	0.86243	AGT		0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	69	1	0	3.32936e-07	1	3.67982e-07	19	69				
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	lincRNA	DEL	G	G	-	rs371047928|rs368317583		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463																																						ENST00000448256.1																			0																																																			0							g.chr2:201967218delG																													2.37:g.201967218delG														0	628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.463	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			2	4						2	4	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81124151	81124151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:81124151delC	ENST00000504452.1	+	8	2374	c.1535delC	c.(1534-1536)tccfs	p.S512fs	PRDM8_ENST00000339711.4_Frame_Shift_Del_p.S512fs|PRDM8_ENST00000415738.2_Frame_Shift_Del_p.S512fs			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	512					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCGCAGCTGTCCCCGCTGGTG	0.761																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(1534-1536)tcfs		PR domain containing 8							3.0	3.0	3.0					4																	81124151		1367	3119	4486	SO:0001589	frameshift_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124151delC	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1535delC	4.37:g.81124151delC	ENSP00000423985:p.Ser512fs					PRDM8_ENST00000504452.1_Frame_Shift_Del_p.S512fs|PRDM8_ENST00000415738.2_Frame_Shift_Del_p.S512fs	p.S512fs	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2766	+			512					A8K7X2|Q6IQ36	Frame_Shift_Del	DEL	ENST00000504452.1	37	c.1535delC	CCDS43243.1																																																																																				0.761	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			2	4						2	4	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422531	139422532	+	In_Frame_Ins	INS	-	-	GCTGCTGCT			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:139422531_139422532insGCTGCTGCT	ENST00000361474.1	-	1	347_348	c.123_124insAGCAGCAGC	c.(121-126)agcgag>agcAGCAGCAGCgag	p.40_41insSSS	NRG2_ENST00000541337.1_In_Frame_Ins_p.40_41insSSS|NRG2_ENST00000394770.1_In_Frame_Ins_p.40_41insSSS|NRG2_ENST00000358522.3_In_Frame_Ins_p.40_41insSSS|NRG2_ENST00000289409.4_In_Frame_Ins_p.40_41insSSS|NRG2_ENST00000545385.1_In_Frame_Ins_p.40_41insSSS|NRG2_ENST00000289422.7_In_Frame_Ins_p.40_41insSSS	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	40	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgccgctctcgctgctgctgc	0.703																																						ENST00000541337.1																			2	Deletion - In frame(2)	p.S41delS(2)	soft_tissue(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(121-126)agagag>agAGCAGCAGCagag		neuregulin 2																																				SO:0001652	inframe_insertion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422531_139422532insGCTGCTGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.115_123dupAGCAGCAGC	5.37:g.139422532_139422540dupGCTGCTGCT	ENSP00000354910:p.Ser38_Ser40dup					NRG2_ENST00000394770.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000361474.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000358522.3_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000545385.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000289409.4_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000289422.7_In_Frame_Ins_p.41_42RE>RAAAE	p.41_42RE>RAAAE	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	352_353	-			41			Poly-Ser.			In_Frame_Ins	INS	ENST00000361474.1	37	c.123_124insAGCAGCAGC	CCDS4217.1																																																																																				0.703	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		3	3						3	3	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	8	273						8	273	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145535256	145535257	+	Frame_Shift_Ins	INS	-	-	G	rs541862486		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:145535256_145535257insG	ENST00000528838.1	+	7	852_853	c.692_693insG	c.(691-696)ctggagfs	p.E232fs	HSF1_ENST00000400780.4_Frame_Shift_Ins_p.E167fs|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	232	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGTTCTCCCTGGAGCACGTCC	0.683																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(691-693)cgafs		heat shock transcription factor 1																																				SO:0001589	frameshift_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535256_145535257insG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.694dupG	8.37:g.145535258_145535258dupG	ENSP00000431512:p.Glu232fs					HSF1_ENST00000400780.4_Frame_Shift_Ins_p.R166fs	p.R231fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		7	852_853	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		231			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	c.692_693insG	CCDS6419.1																																																																																				0.683	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		12	182						12	182	---	---	---	---
RP13-60M5.2	0	broad.mit.edu	37	9	91257674	91257676	+	lincRNA	DEL	TCC	TCC	-	rs375444502|rs10561116	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:91257674_91257676delTCC	ENST00000418343.2	-	0	916																											cctctccttgtcctcctcctctt	0.483														573	0.114417	0.2421	0.0634	5008	,	,		19436	0.005		0.0984	False		,,,				2504	0.1074					ENST00000418343.2																			0																																																			0							g.chr9:91257674_91257676delTCC																													9.37:g.91257680_91257682delTCC														0	916	-									RNA	DEL	ENST00000418343.2	37																																																																																						0.483	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681|rs576323391|rs61100998	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GTTTTCTGACAAAAAAAATTT	0.338													?|AAAAAAAA|AAAAAAA|unsure	1399	0.279353	0.3699	0.3112	5008	,	,		20993	0.371		0.1819	False		,,,				2504	0.1401					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102737945delA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737945delA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1007	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.338	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	4						3	4	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	152						7	152	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23451243	23451246	+	Frame_Shift_Del	DEL	CCGC	CCGC	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:23451243_23451246delCCGC	ENST00000262713.2	-	1	605_608	c.230_233delGCGG	c.(229-234)cgcggcfs	p.RG77fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RG77fs|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	77	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTCAAAGGAGCCGCGCTGATTTCG	0.686																																						ENST00000262713.2																			0											c.(229-234)ccfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451243_23451246delCCGC	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.230_233delGCGG	14.37:g.23451243_23451246delCCGC	ENSP00000262713:p.Arg77fs					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RG77fs	p.RG77fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	605_608	-			77			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.230_233delGCGG	CCDS9581.1																																																																																				0.686	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			9	8						9	8	---	---	---	---
SMURF2P1	107133516	broad.mit.edu	37	17	28935711	28935713	+	RNA	DEL	GTA	GTA	-	rs72173531|rs568988840	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:28935711_28935713delGTA	ENST00000579301.1	+	0	431									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		atatatacatgtagtatatatgt	0.296														649	0.129593	0.0477	0.1859	5008	,	,		16183	0.1438		0.1064	False		,,,				2504	0.2096					ENST00000578265.1																			0																																																			0							g.chr17:28935711_28935713delGTA			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935714_28935716delGTA														0	233	+									RNA	DEL	ENST00000579301.1	37																																																																																						0.296	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			2	4						2	4	---	---	---	---
MAP3K14	9020	broad.mit.edu	37	17	43368002	43368003	+	RNA	DEL	CT	CT	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:43368002_43368003delCT	ENST00000344686.2	-	0	217_218							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTAGACGGAGCTCTGTTTCTTC	0.589																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14																																						9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43368002_43368003delCT	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43368004_43368005delCT										Q99558	M3K14_HUMAN			0	217_218	-								A8K2D8|D3DX67|Q8IYN1	RNA	DEL	ENST00000344686.2	37																																																																																						0.589	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		23	66						23	66	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179227	65179228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:65179227_65179228insA	ENST00000310045.7	-	2	4121_4122	c.2648_2649insT	c.(2647-2649)ttcfs	p.F883fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	873					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CACTACTGTTGAAAAAAAGTTG	0.401																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2647-2649)taafs		dermatan sulfate epimerase-like																																				SO:0001589	frameshift_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179227_65179228insA	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2649dupT	18.37:g.65179234_65179234dupA	ENSP00000310565:p.Phe883fs					CTD-2541J13.2_ENST00000583493.1_RNA	p.*883fs	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4121_4122	-		Esophageal squamous(42;0.129)	873					Q17RH1|Q6P5Z3	Frame_Shift_Ins	INS	ENST00000310045.7	37	c.2648_2649insT	CCDS11995.1																																																																																				0.401	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		36	179						36	179	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	284802							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	180						8	180	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47614970	47614971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:47614970_47614971insT	ENST00000371917.4	+	25	3360_3361	c.3360_3361insT	c.(3361-3363)tacfs	p.Y1121fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1121					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGAGATATCATACTACAACAT	0.446																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3358-3363)tcactafs		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47614970_47614971insT	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3361dupT	20.37:g.47614971_47614971dupT	ENSP00000360985:p.Tyr1121fs					ARFGEF2_ENST00000493140.1_3'UTR	p.L1121fs	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		25	3360_3361	+			1121					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.3360_3361insT	CCDS13411.1																																																																																				0.446	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		66	116						66	116	---	---	---	---
