#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
MUC17	140453	broad.mit.edu	37	7	100676663	100676663	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:100676663T>A	ENST00000306151.4	+	3	2030	c.1966T>A	c.(1966-1968)Tcc>Acc	p.S656T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	656	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTGTTGACTCCAACACTCC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1966-1968)Tcc>Acc		mucin 17, cell surface associated							272.0	277.0	275.0					7																	100676663		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676663T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1966T>A	7.37:g.100676663T>A	ENSP00000302716:p.Ser656Thr						p.S656T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2030	+	Lung NSC(181;0.136)|all_lung(186;0.182)		656			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1966T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.471	-0.559865	0.03967	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.22	-2.37	0.06643	.	.	.	.	.	T	0.00936	0.0031	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45600	-0.9250	9	0.02654	T	1	.	2.1548	0.03809	0.3429:0.0:0.179:0.4781	.	656	Q685J3	MUC17_HUMAN	T	656	ENSP00000302716:S656T	ENSP00000302716:S656T	S	+	1	0	MUC17	100463383	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.798000	0.01747	-0.525000	0.06391	-2.563000	0.00173	TCC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	1458	0	0	0	1	0	10	1458				
HAVCR2	84868	broad.mit.edu	37	5	156535950	156535950	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_Silent_p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-45)ctG>ctA		hepatitis A virus cellular receptor 2							135.0	120.0	126.0					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156535950C>T	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T						CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L	p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	15					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.45G>A	CCDS4333.1																																																																																				0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	197	0	0	0	1	0	5	197				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	86	0	0	0	1	0	10	86				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		6	542	0	0	0	1	0	6	542				
JOSD1	9929	broad.mit.edu	37	22	39084975	39084975	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:39084975C>A	ENST00000216039.5	-	3	1153	c.474G>T	c.(472-474)aaG>aaT	p.K158N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	158	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACTCGGGCATCTTGAGTTTGG	0.547																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(472-474)aaG>aaT		Josephin domain containing 1							127.0	108.0	114.0					22																	39084975		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39084975C>A		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.474G>T	22.37:g.39084975C>A	ENSP00000216039:p.Lys158Asn						p.K158N	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1153	-	Melanoma(58;0.04)		158			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.474G>T	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.826872|2.826872	0.50739|0.50739	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.42900	.|0.96	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.046800	.|0.85682	.|D	.|0.000000	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.14438	.|0.01	.|B	.|0.19666	.|0.026	T|T	0.08006|0.08006	-1.0743|-1.0743	5|10	.|0.27082	.|T	.|0.32	.|.	12.9775|12.9775	0.58546|0.58546	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|158	.|Q15040	.|JOS1_HUMAN	Y|N	110|158	.|ENSP00000216039:K158N	.|ENSP00000216039:K158N	D|K	-|-	1|3	0|2	JOSD1|JOSD1	37414921|37414921	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	2.113000|2.113000	0.41902|0.41902	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.547	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		17	417	1	0	2.5808e-16	1	2.78873e-16	17	417				
CABP1	9478	broad.mit.edu	37	12	121098645	121098645	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121098645T>C	ENST00000316803.3	+	4	1073		c.e4+2		CABP1_ENST00000453000.1_Splice_Site|CABP1_ENST00000351200.2_Splice_Site|CABP1_ENST00000288616.3_Splice_Site	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCGAGAGGTAACGGACAGA	0.498																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.e4+2		calcium binding protein 1							113.0	110.0	111.0					12																	121098645		2203	4300	6503	SO:0001630	splice_region_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098645T>C	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.939+2T>C	12.37:g.121098645T>C						CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000316803.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site				Q9NZU7	CABP1_HUMAN			4	1259	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							O95663|Q8N6H5|Q9NZU8	Splice_Site	SNP	ENST00000316803.3	37		CCDS31913.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177845	0.57692	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	.	.	.	5.25	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0835	0.25244	0.1314:0.0726:0.0:0.796	.	.	.	.	.	-1	.	.	.	+	.	.	CABP1	119583028	0.809000	0.29036	0.875000	0.34327	0.825000	0.46686	0.594000	0.24014	0.850000	0.35239	0.528000	0.53228	.		0.498	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677	Intron	23	297	0	0	0	1	0	23	297				
AKAP8	10270	broad.mit.edu	37	19	15483674	15483674	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:15483674C>T	ENST00000269701.2	-	5	909	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	283					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GATCCCGATCCCGCATCCGAG	0.592																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(847-849)cgG>cgA		A kinase (PRKA) anchor protein 8							23.0	25.0	25.0					19																	15483674		2203	4299	6502	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483674C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.849G>A	19.37:g.15483674C>T							p.R283R	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	909	-			283						Silent	SNP	ENST00000269701.2	37	c.849G>A	CCDS12329.1																																																																																				0.592	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		27	91	0	0	0	1	0	27	91				
PLK4	10733	broad.mit.edu	37	4	128816239	128816239	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:128816239G>C	ENST00000270861.5	+	14	2968	c.2694G>C	c.(2692-2694)tgG>tgC	p.W898C	PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	898	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTTGGTTGGGCTACACAGG	0.323																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2692-2694)tgG>tgC		polo-like kinase 4							111.0	114.0	113.0					4																	128816239		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128816239G>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2694G>C	4.37:g.128816239G>C	ENSP00000270861:p.Trp898Cys					PLK4_ENST00000515069.1_Missense_Mutation_p.W820C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C	p.W898C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			14	2968	+			898			POLO box.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2694G>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548975	0.45383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.25	4.37	0.52481	POLO box duplicated domain (2);	0.056561	0.85682	D	0.000000	T	0.12475	0.0303	L	0.35723	1.085	0.80722	D	1	B;B	0.33494	0.01;0.414	B;B	0.38378	0.034;0.272	T	0.06232	-1.0838	10	0.52906	T	0.07	-1.8738	15.0412	0.71793	0.0:0.0:0.8575:0.1425	.	866;898	O00444-2;O00444	.;PLK4_HUMAN	C	898;820;866;837;857;144	ENSP00000270861:W898C;ENSP00000421774:W820C;ENSP00000427554:W866C;ENSP00000423412:W837C;ENSP00000423582:W857C;ENSP00000427568:W144C	ENSP00000270861:W898C	W	+	3	0	PLK4	129035689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.950000	0.70265	2.730000	0.93505	0.479000	0.44913	TGG		0.323	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			77	182	0	0	0	1	0	77	182				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			7	257	0	0	0	1	0	7	257				
SDK1	221935	broad.mit.edu	37	7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1749	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5245-5247)Gaa>Aaa		sidekick cell adhesion molecule 1							79.0	79.0	79.0					7																	4247761		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4247761G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5245G>A	7.37:g.4247761G>A	ENSP00000385899:p.Glu1749Lys					SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	p.E1749K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5384	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1749			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5245G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302508	0.23736	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53640	0.61;0.61	4.67	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.667620	0.13455	N	0.386599	T	0.41604	0.1166	M	0.66560	2.04	0.28442	N	0.916768	P;B;B	0.37158	0.585;0.034;0.249	B;B;B	0.29524	0.103;0.015;0.082	T	0.33394	-0.9870	10	0.22706	T	0.39	.	12.5036	0.55970	0.0817:0.0:0.9183:0.0	.	1729;236;1749	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1749;1729	ENSP00000385899:E1749K;ENSP00000374182:E1729K	ENSP00000374182:E1729K	E	+	1	0	SDK1	4214287	1.000000	0.71417	0.571000	0.28486	0.426000	0.31534	4.633000	0.61318	2.302000	0.77476	0.655000	0.94253	GAA		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		16	271	0	0	0	1	0	16	271				
ZAN	7455	broad.mit.edu	37	7	100350550	100350550	+	RNA	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260.0	315.0	297.0					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	759	0	0	0	1	0	7	759				
TMEM52	339456	broad.mit.edu	37	1	1849760	1849760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:1849760G>A	ENST00000310991.3	-	4	288	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TMEM52_ENST00000378602.3_Missense_Mutation_p.A79V	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	94						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCTGCCGTGCTGGTGGCAG	0.637																																						ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(235-237)gCa>gTa		transmembrane protein 52							47.0	49.0	48.0					1																	1849760		2203	4297	6500	SO:0001583	missense	339456					integral to membrane		g.chr1:1849760G>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.281C>T	1.37:g.1849760G>A	ENSP00000311122:p.Ala94Val					TMEM52_ENST00000310991.3_Missense_Mutation_p.A94V	p.A79V			Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	476	-	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	94					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.236C>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317752	0.23994	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.38401	1.14;1.14	3.71	1.75	0.24633	.	1.039220	0.07675	N	0.936067	T	0.33294	0.0858	L	0.40543	1.245	0.09310	N	1	P;P	0.50819	0.884;0.939	B;P	0.48524	0.396;0.58	T	0.16660	-1.0395	10	0.48119	T	0.1	-8.9629	2.56	0.04770	0.1093:0.1857:0.5143:0.1906	.	94;79	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	V	79;94	ENSP00000367865:A79V;ENSP00000311122:A94V	ENSP00000311122:A94V	A	-	2	0	TMEM52	1839620	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	1.727000	0.38095	0.188000	0.20168	0.511000	0.50034	GCA		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		68	52	0	0	0	1	0	68	52				
PEG10	23089	broad.mit.edu	37	7	94293789	94293789	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:94293789T>A	ENST00000482108.1	+	2	1400	c.921T>A	c.(919-921)aaT>aaA	p.N307K	PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	307					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACGCTGACAATTGTCCTGCCA	0.582																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(919-921)aaT>aaA		paternally expressed 10							20.0	25.0	24.0					7																	94293789		1953	4145	6098	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293789T>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.921T>A	7.37:g.94293789T>A	ENSP00000417587:p.Asn307Lys					PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1400	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		307					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.921T>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279380	0.23307	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.76186	-1.0;-1.0	4.42	1.51	0.23008	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.54013	0.1832	N	0.19112	0.55	0.22684	N	0.998851	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.002	T	0.36163	-0.9759	9	0.29301	T	0.29	.	4.0781	0.09914	0.0:0.5347:0.1743:0.291	.	383;307	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	307	ENSP00000417587:N307K;ENSP00000418944:N307K	ENSP00000417587:N307K	N	+	3	2	PEG10	94131725	0.214000	0.23563	0.998000	0.56505	0.920000	0.55202	0.218000	0.17622	0.203000	0.20529	-0.262000	0.10625	AAT		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		11	40	0	0	0	1	0	11	40				
KCNQ3	3786	broad.mit.edu	37	8	133184899	133184899	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:133184899T>A	ENST00000388996.4	-	7	1506	c.1086A>T	c.(1084-1086)caA>caT	p.Q362H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	362					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGACGGTGTTGCTCCTGCA	0.587																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1084-1086)caA>caT		potassium voltage-gated channel, KQT-like subfamily, member 3							193.0	146.0	162.0					8																	133184899		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133184899T>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1086A>T	8.37:g.133184899T>A	ENSP00000373648:p.Gln362His					KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	p.Q362H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		7	1506	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		362					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1086A>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525173	0.64747	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99186	-5.52;-5.44;-5.53	5.0	-2.3	0.06785	.	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	L	0.56396	1.775	0.46654	D	0.999145	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	D	0.97346	0.9960	10	0.87932	D	0	-21.3538	11.8756	0.52546	0.0:0.3411:0.0:0.6589	.	362;362	E7ET42;O43525	.;KCNQ3_HUMAN	H	362;242;362;351;241	ENSP00000373648:Q362H;ENSP00000429799:Q242H;ENSP00000428790:Q362H	ENSP00000373648:Q362H	Q	-	3	2	KCNQ3	133254081	0.890000	0.30428	0.991000	0.47740	0.984000	0.73092	0.009000	0.13219	-0.300000	0.08895	-0.315000	0.08773	CAA		0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		154	229	0	0	0	1	0	154	229				
C2CD5	9847	broad.mit.edu	37	12	22637787	22637787	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:22637787C>A	ENST00000333957.4	-	13	1649	c.1394G>T	c.(1393-1395)tGt>tTt	p.C465F	C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	465					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TGGTATATGACAAAATCCACA	0.279																																						ENST00000333957.4																			0											c.(1393-1395)tGt>tTt		C2 calcium-dependent domain containing 5							77.0	73.0	74.0					12																	22637787		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22637787C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1394G>T	12.37:g.22637787C>A	ENSP00000334229:p.Cys465Phe					C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F	p.C465F	NM_014802.1	NP_055617.1					13	1649	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1394G>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.616724|2.616724	0.46736|0.46736	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1;0.1|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D|.	0.76494|.	0.849;0.995;0.995;0.996;0.999;0.966|.	P;P;D;D;D;P|.	0.85130|.	0.61;0.903;0.963;0.94;0.997;0.735|.	T|T	0.66806|0.66806	-0.5830|-0.5830	10|5	0.35671|.	T|.	0.21|.	-7.9035|-7.9035	18.8114|18.8114	0.92059|0.92059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	467;465;280;467;456;465|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	F|F	465;465;467;456;465;478;280|162	ENSP00000334229:C465F;ENSP00000388756:C465F;ENSP00000439392:C467F;ENSP00000379345:C456F;ENSP00000441951:C465F;ENSP00000443204:C478F;ENSP00000445288:C280F|.	ENSP00000334229:C465F|.	C|L	-|-	2|3	0|2	KIAA0528|KIAA0528	22529054|22529054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	5.318000|5.318000	0.65829|0.65829	2.422000|2.422000	0.82143|0.82143	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.279	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		15	163	1	0	3.41278e-10	1	3.63605e-10	15	163				
POTEG	404785	broad.mit.edu	37	14	19566012	19566012	+	Splice_Site	SNP	A	A	C	rs542455346	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:19566012A>C	ENST00000409832.3	+	6	1108	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTATACATAGAATTTGCCAGT	0.269													A|||	2	0.000399361	0.0	0.0	5008	,	,		35095	0.0		0.0	False		,,,				2504	0.002					ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e6-1		POTE ankyrin domain family, member G							38.0	47.0	44.0					14																	19566012		1464	2606	4070	SO:0001630	splice_region_variant	404785							g.chr14:19566012A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1056-1A>C	14.37:g.19566012A>C						CTD-2311B13.5_ENST00000548748.1_lincRNA	p.V352_splice	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			6	1108	+			352					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	c.1055_splice	CCDS32018.1																																																																																				0.269	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Silent	4	313	0	0	0	1	0	4	313				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	308	0	0	0	1	0	6	308				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			0							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	64	0	0	0	1	0	4	64				
KIAA0195	9772	broad.mit.edu	37	17	73488859	73488859	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:73488859C>T	ENST00000314256.7	+	15	2295	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	634						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGAGCTTGCCCGCCTCATT	0.647																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1900-1902)gCc>gTc		KIAA0195							53.0	53.0	53.0					17																	73488859		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73488859C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1901C>T	17.37:g.73488859C>T	ENSP00000313885:p.Ala634Val					KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V	p.A634V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2295	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		634					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1901C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088956	0.55968	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87650	-2.28;-2.28	5.77	5.77	0.91146	.	0.053643	0.85682	D	0.000000	D	0.86251	0.5888	L	0.54323	1.7	0.80722	D	1	B;B;B	0.34329	0.079;0.449;0.321	B;B;B	0.33960	0.043;0.173;0.084	D	0.85706	0.1316	10	0.62326	D	0.03	-29.8003	19.9787	0.97318	0.0:1.0:0.0:0.0	.	644;644;634	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	634;644	ENSP00000313885:A634V;ENSP00000364397:A644V	ENSP00000313885:A634V	A	+	2	0	KIAA0195	71000454	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.785000	0.68998	2.733000	0.93635	0.561000	0.74099	GCC		0.647	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		5	427	0	0	0	1	0	5	427				
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12607-12609)acA>acC		mucin 4, cell surface associated							16.0	14.0	15.0					3																	195505842		691	1577	2268	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505842T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12609A>C	3.37:g.195505842T>G						MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13068	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	966					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12609A>C	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	13	0	0	0	1	0	3	13				
AMPD3	272	broad.mit.edu	37	11	10500085	10500085	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:10500085C>G	ENST00000396554.3	+	3	602	c.261C>G	c.(259-261)ttC>ttG	p.F87L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	78					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAAAGTTTCAAGATGATTC	0.537																																						ENST00000396554.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(259-261)ttC>ttG		adenosine monophosphate deaminase 3							156.0	186.0	176.0					11																	10500085		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500085C>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.261C>G	11.37:g.10500085C>G	ENSP00000379802:p.Phe87Leu					AMPD3_ENST00000444303.2_Intron	p.F87L	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	602	+			78					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.261C>G	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538677	0.45176	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.6	3.69	0.42338	.	0.092497	0.85682	D	0.000000	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.10917	-1.0609	10	0.18276	T	0.48	-21.7032	8.8973	0.35472	0.0:0.7682:0.0:0.2318	.	85;78;87	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	78;87;78;78;85;78	ENSP00000432707:F78L;ENSP00000379802:F87L;ENSP00000433284:F78L;ENSP00000379801:F78L;ENSP00000436987:F85L;ENSP00000431648:F78L	ENSP00000379801:F78L	F	+	3	2	AMPD3	10456661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	0.690000	0.31570	0.643000	0.83706	TTC		0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		33	1077	0	0	0	1	0	33	1077				
PC	5091	broad.mit.edu	37	11	66638342	66638342	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:66638342G>C	ENST00000393958.2	-	7	748	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000393960.1_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	219	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAGTAGGCCCGGGTGTAATTC	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Cgg>Ggg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						93.0	109.0	104.0					11																	66638342		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638342G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.655C>G	11.37:g.66638342G>C	ENSP00000377530:p.Arg219Gly					PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393958.2_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	p.R219G	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	8	936	-		Melanoma(852;0.0525)	219			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.655C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886144	0.72410	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55	5.29	3.36	0.38483	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.50993	1.605	0.58432	D	0.999999	D	0.69078	0.997	D	0.72625	0.978	D	0.97373	0.9977	10	0.87932	D	0	-25.086	11.4232	0.49993	0.0:0.0:0.5249:0.4751	.	219	P11498	PYC_HUMAN	G	219;219;219;179;219	ENSP00000377527:R219G;ENSP00000377530:R219G;ENSP00000377532:R219G;ENSP00000434192:R179G;ENSP00000347900:R219G	ENSP00000347900:R219G	R	-	1	2	PC	66394918	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.531000	0.45650	0.584000	0.29591	0.462000	0.41574	CGG		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		5	605	0	0	0	1	0	5	605				
SIPA1L3	23094	broad.mit.edu	37	19	38590667	38590667	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:38590667G>T	ENST00000222345.6	+	5	2240	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	577					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGGGACCGGGCGGGGCCTGC	0.632																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1729-1731)ggG>ggT		signal-induced proliferation-associated 1 like 3							67.0	62.0	63.0					19																	38590667		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590667G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1731G>T	19.37:g.38590667G>T							p.G577G	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2240	+			577					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1731G>T	CCDS33007.1																																																																																				0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		86	176	1	0	2.40943e-26	1	2.69289e-26	86	176				
TOP3B	8940	broad.mit.edu	37	22	22316871	22316871	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22316871C>T	ENST00000398793.2	-	13	1889	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	485					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCGTCTGCTTCTCCAGCATCT	0.662																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1453-1455)gaG>gaA		topoisomerase (DNA) III beta							85.0	72.0	77.0					22																	22316871		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316871C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1455G>A	22.37:g.22316871C>T						TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	p.E485E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1889	-	Colorectal(54;0.105)		485					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.1455G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946274	0.18356	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.12	4.1	0.47936	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.1485	0.31126	0.0:0.7409:0.0:0.2591	.	.	.	.	K	280	.	.	R	-	2	0	TOP3B	20646871	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.352000	0.52239	1.141000	0.42275	0.563000	0.77884	AGA		0.662	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		13	211	0	0	0	1	0	13	211				
MCOLN2	255231	broad.mit.edu	37	1	85417986	85417986	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:85417986G>A	ENST00000370608.3	-	6	754	c.687C>T	c.(685-687)ggC>ggT	p.G229G	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	229					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTAGGTCAATGCCTTTAAGAT	0.328																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(685-687)ggC>ggT		mucolipin 2							98.0	98.0	98.0					1																	85417986		2203	4300	6503	SO:0001819	synonymous_variant	255231					integral to membrane	ion channel activity	g.chr1:85417986G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.687C>T	1.37:g.85417986G>A						MCOLN2_ENST00000284027.5_Silent_p.G201G|MCOLN2_ENST00000531325.1_5'UTR	p.G229G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	6	754	-			229					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Silent	SNP	ENST00000370608.3	37	c.687C>T	CCDS30762.1																																																																																				0.328	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		13	167	0	0	0	1	0	13	167				
PXDN	7837	broad.mit.edu	37	2	1653014	1653014	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:1653014G>A	ENST00000252804.4	-	17	2588	c.2538C>T	c.(2536-2538)caC>caT	p.H846H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	846					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTTGCTGCAGTGCTGTCCGT	0.647																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2536-2538)caC>caT		peroxidasin homolog (Drosophila)							33.0	36.0	35.0					2																	1653014		2189	4284	6473	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653014G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2538C>T	2.37:g.1653014G>A							p.H846H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2588	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	846					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2538C>T	CCDS46221.1																																																																																				0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		32	55	0	0	0	1	0	32	55				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	488	0	0	0	1	0	6	488				
WIPI1	55062	broad.mit.edu	37	17	66430734	66430734	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430734C>A	ENST00000262139.5	-	7	654	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGCTTTTGCCCATCAGGGACA	0.498																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(655-657)Ggg>Tgg		WD repeat domain, phosphoinositide interacting 1							90.0	87.0	88.0					17																	66430734		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430734C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.655G>T	17.37:g.66430734C>A	ENSP00000262139:p.Gly219Trp					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W	p.G219W	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			7	654	-			219					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.655G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559525	0.86335	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.39;2.03	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.105797	0.64402	D	0.000004	T	0.80788	0.4690	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85997	0.1492	10	0.87932	D	0	-22.2488	19.0599	0.93085	0.0:1.0:0.0:0.0	.	219	Q5MNZ9	WIPI1_HUMAN	W	219;137	ENSP00000262139:G219W;ENSP00000437345:G137W	ENSP00000262139:G219W	G	-	1	0	WIPI1	63942329	1.000000	0.71417	0.936000	0.37596	0.891000	0.51852	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	GGG		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		51	173	1	0	9.72345e-25	1	1.07619e-24	51	173				
F5	2153	broad.mit.edu	37	1	169510226	169510226	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510226G>A	ENST00000367797.3	-	13	4303	c.4102C>T	c.(4102-4104)Cta>Tta	p.L1368L	F5_ENST00000367796.3_Silent_p.L1373L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1368	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGGTCTAGAGAAAGGGTT	0.522																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4117-4119)Cta>Tta		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						163.0	180.0	174.0					1																	169510226		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510226G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4102C>T	1.37:g.169510226G>A						F5_ENST00000367797.3_Silent_p.L1368L	p.L1373L			P12259	FA5_HUMAN			13	4318	-	all_hematologic(923;0.208)		1368			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4117C>T	CCDS1281.1																																																																																				0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1499	0	0	0	1	0	8	1499				
ADAMTS1	9510	broad.mit.edu	37	21	28214913	28214913	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:28214913G>A	ENST00000284984.3	-	2	1276	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(820-822)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							80.0	71.0	74.0					21																	28214913		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214913G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.822C>T	21.37:g.28214913G>A							p.H274H	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	2	1276	-		Breast(209;0.000962)	274			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.822C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	9.460	1.092734	0.20471	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.44	-1.59	0.08453	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56481	-0.7972	4	.	.	.	.	12.2727	0.54716	0.6587:0.0:0.3413:0.0	.	.	.	.	M	56	.	.	T	-	2	0	ADAMTS1	27136784	0.097000	0.21791	0.993000	0.49108	0.987000	0.75469	-0.483000	0.06536	-0.211000	0.10124	-0.768000	0.03414	ACG		0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			9	322	0	0	0	1	0	9	322				
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	rs201598200		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130.0	118.0	121.0		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		5	356	0	0	0	1	0	5	356				
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G	rs587673408	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	668						cytoplasm (GO:0005737)											GATGAGAAAGAGCCTGAAGTC	0.483													.|||	167	0.0333466	0.1097	0.0115	5008	,	,		50002	0.001		0.006	False		,,,				2504	0.0072					ENST00000369373.5																			0											c.(82-84)gAg>gGg		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220816A>G	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.83A>G	1.37:g.144220816A>G	ENSP00000358380:p.Glu28Gly						p.E28G							2	83	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.83A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.213|8.213	0.800676|0.800676	0.16397|0.16397	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.15603|.	2.41|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	.|.	.|.	.|.	B;B;.;B;B|.	0.23316|.	0.0;0.001;.;0.083;0.002|.	B;B;.;B;B|.	0.34038|.	0.0;0.003;.;0.174;0.011|.	T|.	0.29610|.	-1.0006|.	3|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	434;30;601;376;443|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	G|G	28|3579	ENSP00000358380:E28G|.	.|.	E|S	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932173|142932173	0.724000|0.724000	0.28038|0.28038	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAG|AGC		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				11	1770	0	0	0	1	0	11	1770				
F5	2153	broad.mit.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220.0	242.0	235.0					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		10	1880	0	0	0	1	0	10	1880				
LSM14B	149986	broad.mit.edu	37	20	60701454	60701454	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60701454G>A	ENST00000279068.6	+	3	546	c.386G>A	c.(385-387)aGc>aAc	p.S129N	LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N|LSM14B_ENST00000253001.4_Missense_Mutation_p.S129N	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	129					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTGGCGGCCAGCTCCCTGCTC	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(385-387)aGc>aAc		LSM14B, SCD6 homolog B (S. cerevisiae)							35.0	39.0	38.0					20																	60701454		2028	4169	6197	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701454G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.386G>A	20.37:g.60701454G>A	ENSP00000279068:p.Ser129Asn					LSM14B_ENST00000279068.6_Missense_Mutation_p.S129N|LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N	p.S129N			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	592	+	Breast(26;3.97e-09)		129					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.386G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724866	0.68959	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.55588	0.88;0.87;0.9;0.51	5.42	5.42	0.78866	.	0.162938	0.64402	D	0.000002	T	0.56001	0.1956	M	0.75264	2.295	0.40246	D	0.978013	B;P;P;P;B	0.44429	0.134;0.647;0.799;0.835;0.047	B;B;B;B;B	0.41666	0.037;0.146;0.156;0.363;0.031	T	0.63056	-0.6722	10	0.49607	T	0.09	.	14.7797	0.69756	0.0:0.144:0.856:0.0	.	10;10;129;155;129	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	N	129;129;129;10;155;129;10;10	ENSP00000279068:S129N;ENSP00000253001:S129N;ENSP00000383172:S155N;ENSP00000355209:S10N	ENSP00000253001:S129N	S	+	2	0	LSM14B	60134849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.529000	0.85273	0.511000	0.50034	AGC		0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		43	77	0	0	0	1	0	43	77				
PAPPA2	60676	broad.mit.edu	37	1	176659486	176659486	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176659486G>A	ENST00000367662.3	+	5	3515	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	784					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGTGCCGGGAACCAGAG	0.577																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2350-2352)cGg>cAg		pappalysin 2							88.0	92.0	90.0					1																	176659486		1966	4133	6099	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659486G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2351G>A	1.37:g.176659486G>A	ENSP00000356634:p.Arg784Gln					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			5	3515	+			784					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2351G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	2.709	-0.269311	0.05716	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.8;1.55	5.51	-1.73	0.08081	Peptidase M43, pregnancy-associated plasma-A (1);	0.652550	0.16106	N	0.229335	T	0.17704	0.0425	N	0.25647	0.755	0.30128	N	0.805098	B;B	0.24483	0.104;0.024	B;B	0.21917	0.037;0.012	T	0.34750	-0.9816	10	0.09843	T	0.71	-0.187	13.3144	0.60399	0.3731:0.0:0.6269:0.0	.	784;784	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	784	ENSP00000356634:R784Q;ENSP00000356633:R784Q	ENSP00000356633:R784Q	R	+	2	0	PAPPA2	174926109	1.000000	0.71417	0.863000	0.33907	0.014000	0.08584	1.367000	0.34204	-0.594000	0.05836	-0.251000	0.11542	CGG		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			250	377	0	0	0	1	0	250	377				
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56.0	52.0	53.0					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		5	307	1	0	0.000602214	1	0.000615717	5	307				
SPATA31D5P	347127	broad.mit.edu	37	9	84528377	84528377	+	RNA	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:84528377C>G	ENST00000527857.1	+	0	26					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCATGCTATTCAAACCATGGA	0.458																																						ENST00000527857.1																			0																																																			0							g.chr9:84528377C>G			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528377C>G								NR_026851.1						0	26	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.458	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		12	30	0	0	0	1	0	12	30				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	667	0	0	0	1	0	6	667				
TMEM53	79639	broad.mit.edu	37	1	45120689	45120689	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:45120689G>C	ENST00000372237.3	-	3	539	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	126						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTGCAGGAGCTCCAGCACG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(376-378)Ctc>Gtc		transmembrane protein 53							50.0	51.0	51.0					1																	45120689		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120689G>C		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.376C>G	1.37:g.45120689G>C	ENSP00000361311:p.Leu126Val		OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	p.L126V	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	539	-	Acute lymphoblastic leukemia(166;0.155)		126					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.376C>G	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521758	0.64747	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.129271	0.52532	D	0.000064	T	0.69305	0.3096	M	0.67953	2.075	0.58432	D	0.999997	D	0.69078	0.997	D	0.70716	0.97	T	0.65278	-0.6207	9	0.22706	T	0.39	.	10.263	0.43438	0.0751:0.1477:0.7771:0.0	.	126	Q6P2H8	TMM53_HUMAN	V	126;126;96;95	.	ENSP00000361309:L96V	L	-	1	0	TMEM53	44893276	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.322000	0.52007	2.687000	0.91594	0.563000	0.77884	CTC		0.612	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		6	155	0	0	0	1	0	6	155				
RNF125	54941	broad.mit.edu	37	18	29622203	29622203	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:29622203G>C	ENST00000217740.3	+	3	872	c.380G>C	c.(379-381)gGa>gCa	p.G127A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	127					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATAAGTATGGACCACTACAA	0.328																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(379-381)gGa>gCa		ring finger protein 125, E3 ubiquitin protein ligase							81.0	78.0	79.0					18																	29622203		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29622203G>C	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.380G>C	18.37:g.29622203G>C	ENSP00000217740:p.Gly127Ala					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.G127A	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			3	872	+			127					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.380G>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686264	0.47991	.	.	ENSG00000101695	ENST00000217740	D	0.82255	-1.59	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000024	D	0.88040	0.6330	L	0.54323	1.7	0.50813	D	0.999893	D	0.76494	0.999	D	0.83275	0.996	T	0.83353	-0.0002	10	0.13853	T	0.58	0.442	16.7717	0.85539	0.0:0.0:1.0:0.0	.	127	Q96EQ8	RN125_HUMAN	A	127	ENSP00000217740:G127A	ENSP00000217740:G127A	G	+	2	0	RNF125	27876201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.059000	0.64306	2.767000	0.95098	0.563000	0.77884	GGA		0.328	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		4	88	0	0	0	1	0	4	88				
EIF3F	8665	broad.mit.edu	37	11	8014505	8014505	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:8014505A>C	ENST00000533626.1	+	6	1213	c.587A>C	c.(586-588)aAc>aCc	p.N196T	EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCCCCCAACCCCATCCAC	0.557																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(586-588)aAc>aCc		eukaryotic translation initiation factor 3, subunit F							104.0	95.0	98.0					11																	8014505		2201	4293	6494	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014505A>C	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.587A>C	11.37:g.8014505A>C	ENSP00000431800:p.Asn196Thr					EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T	p.N196T			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1213	+			196			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.587A>C	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586482	0.86851	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.47869	1.39;1.39;1.39;0.83	4.97	4.97	0.65823	.	0.042963	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77406	2.37	0.80722	D	1	D	0.56521	0.976	D	0.67725	0.953	T	0.71490	-0.4577	10	0.66056	D	0.02	-18.8904	13.2394	0.59987	1.0:0.0:0.0:0.0	.	196	O00303	EIF3F_HUMAN	T	196;211;196;146;47	ENSP00000431800:N196T;ENSP00000442283:N211T;ENSP00000310040:N196T;ENSP00000396929:N47T	ENSP00000310040:N196T	N	+	2	0	EIF3F	7971081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.158000	0.67659	0.460000	0.39030	AAC		0.557	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		9	364	0	0	0	1	0	9	364				
SPP2	6694	broad.mit.edu	37	2	234959698	234959698	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234959698A>T	ENST00000168148.3	+	2	257	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	57					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCAGTCACTGAGTCCGTATCT	0.468																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(169-171)Agt>Tgt		secreted phosphoprotein 2, 24kDa							115.0	100.0	105.0					2																	234959698		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959698A>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.169A>T	2.37:g.234959698A>T	ENSP00000168148:p.Ser57Cys					SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Missense_Mutation_p.S57C	p.S57C	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	2	257	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	57					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.169A>T	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077136	0.55753	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.51071	0.72;0.72	5.39	3.07	0.35406	.	0.136200	0.52532	D	0.000071	T	0.60392	0.2265	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49341	-0.8950	10	0.62326	D	0.03	-31.8015	6.1693	0.20408	0.8066:0.0:0.1934:0.0	.	57	Q13103	SPP24_HUMAN	C	57	ENSP00000362466:S57C;ENSP00000168148:S57C	ENSP00000168148:S57C	S	+	1	0	SPP2	234624437	0.997000	0.39634	0.772000	0.31596	0.826000	0.46750	1.596000	0.36718	0.903000	0.36546	0.533000	0.62120	AGT		0.468	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		93	127	0	0	0	1	0	93	127				
ASTN2	23245	broad.mit.edu	37	9	120053699	120053699	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:120053699C>A	ENST00000313400.4	-	2	636	c.536G>T	c.(535-537)aGc>aTc	p.S179I	ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I			O75129	ASTN2_HUMAN	astrotactin 2	179					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCCCGGAGCTGCTCATGGA	0.592																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(535-537)aGc>aTc		astrotactin 2							65.0	63.0	63.0					9																	120053699		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:120053699C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.536G>T	9.37:g.120053699C>A	ENSP00000314038:p.Ser179Ile					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I	p.S179I			O75129	ASTN2_HUMAN			2	636	-			179					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.536G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.209137	0.79240	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11495	2.8;2.8;2.77	5.58	5.58	0.84498	.	0.141111	0.56097	D	0.000032	T	0.15046	0.0363	N	0.19112	0.55	0.38032	D	0.935204	P;P;D	0.61080	0.911;0.855;0.989	P;B;P	0.58820	0.563;0.36;0.846	T	0.08126	-1.0737	9	.	.	.	-29.8448	13.1929	0.59722	0.0:0.9271:0.0:0.0729	.	179;179;179	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	179	ENSP00000314038:S179I;ENSP00000363108:S179I;ENSP00000354504:S179I	.	S	-	2	0	ASTN2	119093520	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.132000	0.50523	2.782000	0.95742	0.655000	0.94253	AGC		0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		52	342	1	0	5.73376e-24	1	6.31544e-24	52	342				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		47	88	0	0	0	1	0	47	88				
HYPM	25763	broad.mit.edu	37	X	37850202	37850202	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:37850202A>T	ENST00000341016.3	+	1	133	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		37										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CGCGTTGTGCAAGATGAACGA	0.478																																						ENST00000341016.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(109-111)cAa>cTa		chromosome X open reading frame 27							87.0	81.0	83.0					X																	37850202		2011	4167	6178	SO:0001583	missense	25763						DNA binding	g.chrX:37850202A>T																												ENST00000341016.3:c.110A>T	X.37:g.37850202A>T	ENSP00000339511:p.Gln37Leu					TM4SF2_ENST00000465127.1_Intron	p.Q37L	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN			1	133	+			37					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.110A>T	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616948	0.46736	.	.	ENSG00000187516	ENST00000341016	T	0.48836	0.8	3.7	-3.49	0.04724	Histone-fold (2);	.	.	.	.	T	0.53238	0.1784	L	0.48642	1.525	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.52305	-0.8593	9	0.59425	D	0.04	.	9.1117	0.36732	0.443:0.0:0.557:0.0	.	37	O75409	HYPM_HUMAN	L	37	ENSP00000339511:Q37L	ENSP00000339511:Q37L	Q	+	2	0	CXorf27	37735146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.197000	0.17197	-0.845000	0.04179	0.417000	0.27973	CAA		0.478	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			59	120	0	0	0	1	0	59	120				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	137	0	0	0	1	0	4	137				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	2582	0	0	0	1	0	12	2582				
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:23205193A>G	ENST00000400153.2	-	0	661					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GGTGTCCTTGAATAACCTAGA	0.398																																						ENST00000400153.2																			0																																																			0							g.chr15:23205193A>G	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205193A>G								NR_003521.1						0	661	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.398	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	51	0	0	0	1	0	4	51				
RNF38	152006	broad.mit.edu	37	9	36351123	36351123	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351123C>G	ENST00000259605.6	-	9	1359	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000357058.3_Missense_Mutation_p.E335Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q|RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	418					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TCGTAATTTTCTACTTCTCCA	0.378																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1003-1005)Gaa>Caa		ring finger protein 38							86.0	82.0	83.0					9																	36351123		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351123C>G		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1252G>C	9.37:g.36351123C>G	ENSP00000259605:p.Glu418Gln					RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000259605.6_Missense_Mutation_p.E418Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q	p.E335Q	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1609	-			418			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1003G>C	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499260	0.85069	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.16073	2.37;2.4;2.41;2.41;2.41;2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;D	0.87578	0.998;0.958;0.995	T	0.22138	-1.0225	10	0.66056	D	0.02	-6.4143	16.4624	0.84064	0.0:1.0:0.0:0.0	.	342;368;418	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	Q	418;368;335;335;335;235;342;342	ENSP00000259605:E418Q;ENSP00000335239:E368Q;ENSP00000367117:E335Q;ENSP00000349566:E335Q;ENSP00000343947:E335Q;ENSP00000367109:E342Q	ENSP00000259605:E418Q	E	-	1	0	RNF38	36341123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.553000	0.86117	0.563000	0.77884	GAA		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		19	45	0	0	0	1	0	19	45				
ZNF608	57507	broad.mit.edu	37	5	123984759	123984759	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123984759A>T	ENST00000306315.5	-	4	1753	c.1318T>A	c.(1318-1320)Tct>Act	p.S440T	ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	440							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAGCAGCAGACCTCGCTCTC	0.597																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1318-1320)Tct>Act		zinc finger protein 608							31.0	34.0	33.0					5																	123984759		2202	4296	6498	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984759A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1318T>A	5.37:g.123984759A>T	ENSP00000307746:p.Ser440Thr					ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	p.S440T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1753	-		all_cancers(142;0.186)|Prostate(80;0.081)	440					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1318T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027154	0.35797	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.45276	0.93;0.9	5.26	5.26	0.73747	.	0.178789	0.50627	D	0.000117	T	0.22166	0.0534	N	0.14661	0.345	0.30518	N	0.768777	B	0.02656	0.0	B	0.06405	0.002	T	0.18304	-1.0341	10	0.08837	T	0.75	-13.6396	9.307	0.37881	0.7225:0.0:0.0:0.2775	.	440	Q9ULD9	ZN608_HUMAN	T	13;440;440;440	ENSP00000427657:S13T;ENSP00000307746:S440T	ENSP00000307746:S440T	S	-	1	0	ZNF608	124012658	0.999000	0.42202	0.853000	0.33588	0.600000	0.36913	1.070000	0.30653	1.989000	0.58080	0.445000	0.29226	TCT		0.597	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		11	299	0	0	0	1	0	11	299				
LIMCH1	22998	broad.mit.edu	37	4	41605916	41605916	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:41605916G>A	ENST00000313860.7	+	5	423	c.369G>A	c.(367-369)ctG>ctA	p.L123L	LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	123	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGGAAGCTGAAAAATGTAA	0.338																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(367-369)ctG>ctA		LIM and calponin homology domains 1							111.0	111.0	111.0					4																	41605916		2202	4297	6499	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41605916G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.369G>A	4.37:g.41605916G>A						LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000509638.1_5'UTR	p.L123L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			5	423	+			123			CH.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.369G>A	CCDS33977.1																																																																																				0.338	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		58	115	0	0	0	1	0	58	115				
CCNL1	57018	broad.mit.edu	37	3	156866115	156866115	+	Missense_Mutation	SNP	C	C	T	rs202095674		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:156866115C>T	ENST00000295926.3	-	11	1614	c.1496G>A	c.(1495-1497)cGt>cAt	p.R499H	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	499					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGATCGTTCACGCCTGTCCCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19074	0.001		0.0	False		,,,				2504	0.0					ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1495-1497)cGt>cAt		cyclin L1		C	HIS/ARG	0,4406		0,0,2203	218.0	185.0	196.0		1496	4.3	0.8	3		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCNL1	NM_020307.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	499/527	156866115	1,13005	2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866115C>T	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1496G>A	3.37:g.156866115C>T	ENSP00000295926:p.Arg499His					CCNL1_ENST00000461804.1_Intron	p.R499H	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1614	-			499					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1496G>A	CCDS3178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.15	2.746831	0.49257	0.0	1.16E-4	ENSG00000163660	ENST00000295926	T	0.22945	1.93	5.2	4.32	0.51571	.	0.110120	0.53938	D	0.000041	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	P	0.42584	0.784	B	0.38616	0.277	T	0.03025	-1.1081	10	0.27785	T	0.31	-1.4904	13.7858	0.63108	0.0:0.9257:0.0:0.0743	.	499	Q9UK58	CCNL1_HUMAN	H	499	ENSP00000295926:R499H	ENSP00000295926:R499H	R	-	2	0	CCNL1	158348809	0.999000	0.42202	0.844000	0.33320	0.808000	0.45660	4.102000	0.57776	1.314000	0.45095	0.557000	0.71058	CGT		0.512	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		120	263	0	0	0	1	0	120	263				
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4																			1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	222.0	222.0		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	543	0	0	0	1	0	7	543				
ABHD17A	81926	broad.mit.edu	37	19	1881263	1881263	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																						ENST00000292577.7																			3	Substitution - coding silent(3)	p.C101C(3)	lung(2)|endometrium(1)								c.(301-303)tgC>tgT		abhydrolase domain containing 17A							35.0	39.0	38.0					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926							g.chr19:1881263G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A						ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	p.C101C	NM_001130111.1	NP_001123583.1					2	736	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.303C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		5	192	0	0	0	1	0	5	192				
TMPRSS3	64699	broad.mit.edu	37	21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T	rs369418733		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAAGCGATCGGAATGAGAA	0.517																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(46-48)cGa>cAa		transmembrane protease, serine 3		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	102.0	107.0		47,47	4.5	1.0	21		107	0,8600		0,0,4300	no	missense,missense	TMPRSS3	NM_024022.2,NM_032405.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	16/455,16/345	43815480	1,13005	2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43815480C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.47G>A	21.37:g.43815480C>T	ENSP00000291532:p.Arg16Gln					TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q	p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			2	1002	-			16					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.47G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916630	0.73098	2.27E-4	0.0	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88354	-2.33;-2.33;-2.33;-2.37;-2.33	5.39	4.5	0.54988	.	0.132141	0.36628	N	0.002499	T	0.80276	0.4593	N	0.19112	0.55	0.28577	N	0.910325	D;P;P	0.57899	0.981;0.948;0.913	B;B;B	0.43916	0.436;0.237;0.12	T	0.74551	-0.3628	9	.	.	.	.	9.3585	0.38182	0.0:0.904:0.0:0.096	.	16;16;16	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Q	16;16;16;100;16	ENSP00000291532:R16Q;ENSP00000411013:R16Q;ENSP00000381442:R16Q;ENSP00000369762:R100Q;ENSP00000381434:R16Q	.	R	-	2	0	TMPRSS3	42688549	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	1.712000	0.37940	2.691000	0.91804	0.655000	0.94253	CGA		0.517	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			46	91	0	0	0	1	0	46	91				
SUSD2	56241	broad.mit.edu	37	22	24579030	24579030	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579030C>G	ENST00000358321.3	+	2	343	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	28	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGATGCCCAAGAGAGCTG	0.642																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(82-84)Caa>Gaa		sushi domain containing 2							55.0	65.0	62.0					22																	24579030		2202	4300	6502	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579030C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.82C>G	22.37:g.24579030C>G	ENSP00000351075:p.Gln28Glu						p.Q28E	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	343	+			28			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.82C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156549	0.21454	.	.	ENSG00000099994	ENST00000358321	T	0.42131	0.98	3.49	3.49	0.39957	Somatomedin B domain (3);	0.591391	0.14759	N	0.300115	T	0.35856	0.0946	L	0.54323	1.7	0.09310	N	1	B	0.33000	0.393	B	0.33846	0.171	T	0.21965	-1.0230	10	0.41790	T	0.15	-6.7537	7.0078	0.24846	0.0:0.8753:0.0:0.1247	.	28	Q9UGT4	SUSD2_HUMAN	E	28	ENSP00000351075:Q28E	ENSP00000351075:Q28E	Q	+	1	0	SUSD2	22909030	0.000000	0.05858	0.687000	0.30102	0.787000	0.44495	-0.114000	0.10757	2.007000	0.58848	0.449000	0.29647	CAA		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		16	343	0	0	0	1	0	16	343				
MAP4K5	11183	broad.mit.edu	37	14	50911762	50911762	+	Missense_Mutation	SNP	T	T	C	rs55815015	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:50911762T>C	ENST00000013125.4	-	18	1654	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	446			I -> V (in dbSNP:rs55815015). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GCCATACCAATAGAAGAAGTC	0.413													T|||	9	0.00179712	0.0	0.0	5008	,	,		16081	0.0089		0.0	False		,,,				2504	0.0					ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1336-1338)Att>Gtt		mitogen-activated protein kinase kinase kinase kinase 5							87.0	81.0	83.0					14																	50911762		1850	4093	5943	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50911762T>C	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1336A>G	14.37:g.50911762T>C	ENSP00000013125:p.Ile446Val						p.I446V	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			18	1654	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		446		I -> V (in dbSNP:rs55815015).			Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1336A>G		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	T	8.406	0.843090	0.16963	.	.	ENSG00000012983	ENST00000013125	T	0.13657	2.57	5.38	-0.756	0.11057	Protein kinase-like domain (1);	0.528155	0.20244	N	0.096221	T	0.03095	0.0091	N	0.08118	0	0.36535	D	0.870936	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.41305	-0.9516	10	0.15952	T	0.53	.	4.6228	0.12463	0.1045:0.0688:0.2378:0.5889	rs55815015	120;446;446	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	446	ENSP00000013125:I446V	ENSP00000013125:I446V	I	-	1	0	MAP4K5	49981512	0.750000	0.28316	0.991000	0.47740	0.887000	0.51463	-0.221000	0.09202	-0.008000	0.14320	-0.323000	0.08544	ATT		0.413	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		11	125	0	0	0	1	0	11	125				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2704-2706)caG>caA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T							p.Q902Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3124	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	366	0	0	0	1	0	7	366				
CCT6P3	643180	broad.mit.edu	37	7	64525391	64525391	+	RNA	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:64525391A>T	ENST00000426828.1	+	0	221				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TTCAACACCCAACAGCTTCCT	0.383																																						ENST00000426828.1																			0																																																			0							g.chr7:64525391A>T			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64525391A>T								NR_033416.1						0	221	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.383	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	524	0	0	0	1	0	7	524				
CDH4	1002	broad.mit.edu	37	20	60511862	60511862	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60511862A>G	ENST00000360469.5	+	16	2700	c.2612A>G	c.(2611-2613)gAg>gGg	p.E871G	CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	871					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCGACTACGAGGGGAGCGGC	0.627																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2611-2613)gAg>gGg		cadherin 4, type 1, R-cadherin (retinal)							48.0	46.0	47.0					20																	60511862		2203	4299	6502	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511862A>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2612A>G	20.37:g.60511862A>G	ENSP00000353656:p.Glu871Gly					CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	p.E871G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2700	+			871					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2612A>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433272	0.83776	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.87966	-2.32;-2.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95944	0.8949	9	.	.	.	.	13.8037	0.63218	1.0:0.0:0.0:0.0	.	871	P55283	CADH4_HUMAN	G	871;779;797	ENSP00000353656:E871G;ENSP00000443301:E797G	.	E	+	2	0	CDH4	59945257	1.000000	0.71417	0.695000	0.30226	0.635000	0.38103	9.016000	0.93645	1.681000	0.50988	0.383000	0.25322	GAG		0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		24	157	0	0	0	1	0	24	157				
RBM24	221662	broad.mit.edu	37	6	17292038	17292038	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:17292038C>G	ENST00000379052.5	+	4	635	c.399C>G	c.(397-399)gtC>gtG	p.V133V	RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Silent_p.V88V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	133					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CGGGAGTGGTCATTCCACACG	0.542																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(397-399)gtC>gtG		RNA binding motif protein 24							87.0	101.0	96.0					6																	17292038		2176	4286	6462	SO:0001819	synonymous_variant	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292038C>G	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.399C>G	6.37:g.17292038C>G						RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000508508.1_3'UTR	p.V133V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	635	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	133					E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	37	c.399C>G	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329137	0.24167	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3684	3.4813	0.07603	0.3218:0.4196:0.1748:0.0839	.	.	.	.	X	98	.	.	S	+	2	0	RBM24	17400017	0.303000	0.24463	0.997000	0.53966	0.998000	0.95712	-0.217000	0.09253	0.020000	0.15106	0.591000	0.81541	TCA		0.542	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		11	522	0	0	0	1	0	11	522				
CASS4	57091	broad.mit.edu	37	20	55033569	55033569	+	Silent	SNP	C	C	T	rs372142142		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:55033569C>T	ENST00000360314.3	+	7	2352	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	CASS4_ENST00000434344.1_Silent_p.V272V|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.V709V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	709					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(2125-2127)gtC>gtT		Cas scaffolding protein family member 4		C	,,,	1,4405	2.1+/-5.4	0,1,2202	92.0	78.0	83.0		1965,816,2127,2127	4.0	0.9	20		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	655/733,272/350,709/787,709/787	55033569	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033569C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2127C>T	20.37:g.55033569C>T						CASS4_ENST00000360314.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V	p.V709V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			6	2328	+			709					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.2127C>T	CCDS33492.1																																																																																				0.617	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		78	151	0	0	0	1	0	78	151				
ADCY10	55811	broad.mit.edu	37	1	167830232	167830232	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:167830232G>T	ENST00000367851.4	-	15	1870	c.1686C>A	c.(1684-1686)gcC>gcA	p.A562A	ADCY10_ENST00000367848.1_Silent_p.A470A|ADCY10_ENST00000545172.1_Silent_p.A409A	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	562					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTAGGACATTGGCCATGAACA	0.373																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1408-1410)gcC>gcA		adenylate cyclase 10 (soluble)							174.0	166.0	169.0					1																	167830232		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830232G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1686C>A	1.37:g.167830232G>T						ADCY10_ENST00000367851.4_Silent_p.A562A|ADCY10_ENST00000545172.1_Silent_p.A409A	p.A470A			Q96PN6	ADCYA_HUMAN			15	1907	-			562					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1410C>A	CCDS1265.1																																																																																				0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	423	1	0	6.40141e-05	1	6.60417e-05	9	423				
WHAMMP3	339005	broad.mit.edu	37	15	23205184	23205184	+	RNA	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:23205184G>A	ENST00000400153.2	-	0	670					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGGCTTTTCGGTGTCCTTGAA	0.403																																						ENST00000400153.2																			0																																																			0							g.chr15:23205184G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205184G>A								NR_003521.1						0	670	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.403	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	51	0	0	0	1	0	4	51				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	180	0	0	0	1	0	6	180				
TIMM10B	26515	broad.mit.edu	37	11	6503419	6503419	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6503419G>A	ENST00000254616.6	+	3	350	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K|ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000445086.2_5'Flank|TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000396777.3_5'Flank|ARFIP2_ENST00000423813.2_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	94					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										CGTTGCTGCTGAACAGCCTGG	0.637																																						ENST00000254616.6																			0											c.(280-282)Gaa>Aaa		translocase of inner mitochondrial membrane 10 homolog B (yeast)							35.0	33.0	34.0					11																	6503419		2201	4296	6497	SO:0001583	missense	26515							g.chr11:6503419G>A	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"""fracture callus 1 (rat) homolog"", ""fracture callus 1 homolog (rat)"""	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.280G>A	11.37:g.6503419G>A	ENSP00000254616:p.Glu94Lys					TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K	p.E94K	NM_012192.3	NP_036324.1					3	350	+								Q96FF3	Missense_Mutation	SNP	ENST00000254616.6	37	c.280G>A	CCDS7766.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014229	0.54468	.	.	ENSG00000132286	ENST00000254616;ENST00000530751;ENST00000531462;ENST00000533379	T;T;T;T	0.35973	1.44;1.28;1.28;1.44	5.76	2.72	0.32119	.	0.405610	0.28470	N	0.015234	T	0.23611	0.0571	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12837	-1.0532	10	0.26408	T	0.33	-20.1978	13.9594	0.64170	0.0:0.4417:0.5583:0.0	.	94	Q9Y5J6	TIM9B_HUMAN	K	94;62;62;94	ENSP00000254616:E94K;ENSP00000436579:E62K;ENSP00000433087:E62K;ENSP00000436948:E94K	ENSP00000254616:E94K	E	+	1	0	FXC1	6459995	0.631000	0.27164	0.263000	0.24496	0.501000	0.33797	2.224000	0.42945	0.377000	0.24735	0.655000	0.94253	GAA		0.637	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		35	124	0	0	0	1	0	35	124				
EXOC3L1	283849	broad.mit.edu	37	16	67221162	67221162	+	Missense_Mutation	SNP	C	C	T	rs571286410		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:67221162C>T	ENST00000314586.6	-	5	1246	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	336	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.A336T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCAGCAAGGCGAAGGCATCC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		20533	0.0		0.0	False		,,,				2504	0.001					ENST00000314586.6																			2	Substitution - Missense(2)	p.A336T(2)	large_intestine(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1006-1008)Gcc>Acc		exocyst complex component 3-like 1							41.0	37.0	38.0					16																	67221162		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221162C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1006G>A	16.37:g.67221162C>T	ENSP00000325674:p.Ala336Thr					EXOC3L1_ENST00000562887.1_Intron	p.A336T	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	1246	-			336			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1006G>A	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	c	0.738	-0.777374	0.02929	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.18338	3.09;2.22	5.44	-0.326	0.12698	.	0.688796	0.14773	N	0.299287	T	0.04588	0.0125	N	0.02539	-0.55	0.25226	N	0.989867	B;B;B	0.16802	0.002;0.019;0.002	B;B;B	0.11329	0.001;0.006;0.002	T	0.37979	-0.9682	10	0.17369	T	0.5	-2.9961	2.2378	0.04012	0.1226:0.3296:0.1229:0.4249	.	275;275;336	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	T	336;275;280	ENSP00000325674:A336T;ENSP00000439910:A275T	ENSP00000325008:A280T	A	-	1	0	EXOC3L1	65778663	0.013000	0.17824	0.967000	0.41034	0.168000	0.22595	-0.502000	0.06390	-0.269000	0.09298	-1.467000	0.01014	GCC		0.632	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		55	101	0	0	0	1	0	55	101				
F5	2153	broad.mit.edu	37	1	169510489	169510489	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510489A>G	ENST00000367797.3	-	13	4040	c.3839T>C	c.(3838-3840)cTc>cCc	p.L1280P	F5_ENST00000367796.3_Missense_Mutation_p.L1285P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1280	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.498																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3853-3855)cTc>cCc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						212.0	227.0	222.0					1																	169510489		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510489A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3839T>C	1.37:g.169510489A>G	ENSP00000356771:p.Leu1280Pro					F5_ENST00000367797.3_Missense_Mutation_p.L1280P	p.L1285P			P12259	FA5_HUMAN			13	4055	-	all_hematologic(923;0.208)		1280		L -> I (in dbSNP:rs1046712).	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3854T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306864	0.40795	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35048	1.33;1.33	4.14	4.14	0.48551	.	2.297870	0.01198	N	0.007505	T	0.14960	0.0361	L	0.43923	1.385	0.19945	N	0.999941	B	0.15719	0.014	B	0.15052	0.012	T	0.09640	-1.0665	9	0.27785	T	0.31	.	6.7085	0.23264	0.889:0.0:0.111:0.0	.	1280	P12259	FA5_HUMAN	P	1280;1285	ENSP00000356771:L1280P;ENSP00000356770:L1285P	ENSP00000356770:L1285P	L	-	2	0	F5	167777113	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	0.302000	0.19192	1.835000	0.53391	0.533000	0.62120	CTC		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1781	0	0	0	1	0	8	1781				
TNN	63923	broad.mit.edu	37	1	175086303	175086303	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:175086303C>A	ENST00000239462.4	+	10	2461	c.2348C>A	c.(2347-2349)gCc>gAc	p.A783D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAGGGGGCCCAGGAGAGC	0.572																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2347-2349)gCc>gAc		tenascin N							84.0	84.0	84.0					1																	175086303		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086303C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2348C>A	1.37:g.175086303C>A	ENSP00000239462:p.Ala783Asp						p.A783D	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2461	+		Breast(1374;0.000962)	783			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2348C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	c	5.911	0.352189	0.11182	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57907	0.37	5.37	-7.99	0.01131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.976720	0.01961	N	0.043375	T	0.22437	0.0541	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.30119	-0.9989	10	0.06236	T	0.91	.	4.7987	0.13284	0.1874:0.5444:0.1401:0.1281	.	783	Q9UQP3	TENN_HUMAN	D	783;606	ENSP00000239462:A783D	ENSP00000239462:A783D	A	+	2	0	TNN	173352926	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.326000	0.02685	-1.295000	0.02357	-0.821000	0.03111	GCC		0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	521	1	0	1.3612e-06	1	1.4302e-06	6	521				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					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)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	164	0	0	0	1	0	4	164				
OXGR1	27199	broad.mit.edu	37	13	97639242	97639242	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:97639242G>T	ENST00000298440.1	-	4	1015	c.772C>A	c.(772-774)Cat>Aat	p.H258N	OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	258					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTCAAGATATGGAAGGGTAAA	0.438																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(772-774)Cat>Aat		oxoglutarate (alpha-ketoglutarate) receptor 1							110.0	106.0	107.0					13																	97639242		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639242G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.772C>A	13.37:g.97639242G>T	ENSP00000298440:p.His258Asn					OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1015	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		258					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.772C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617808	0.66787	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38077	1.16;1.16	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.42581	1.335	0.39180	D	0.962769	D	0.89917	1.0	D	0.91635	0.999	T	0.22347	-1.0219	10	0.06757	T	0.87	.	15.3005	0.73945	0.0:0.0:0.8601:0.1399	.	258	Q96P68	OXGR1_HUMAN	N	258	ENSP00000298440:H258N;ENSP00000438800:H258N	ENSP00000298440:H258N	H	-	1	0	OXGR1	96437243	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.455000	0.73497	2.937000	0.99478	0.650000	0.86243	CAT		0.438	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		6	266	1	0	1	1	1	6	266				
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(337-339)tcC>tcT		keratin associated protein 5-4							8.0	18.0	15.0					11																	1642985		664	1522	2186	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642985G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.339C>T	11.37:g.1642985G>A							p.S113S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	383	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	113			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.339C>T																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	414	0	0	0	1	0	6	414				
SGOL2	151246	broad.mit.edu	37	2	201436126	201436126	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:201436126G>A	ENST00000357799.4	+	7	1155	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	353					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATAATGATGACTTTCAATT	0.373																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1057-1059)Gac>Aac		shugoshin-like 2 (S. pombe)							35.0	33.0	34.0					2																	201436126		1882	4108	5990	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436126G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1057G>A	2.37:g.201436126G>A	ENSP00000350447:p.Asp353Asn						p.D353N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1155	+			353					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1057G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057581	0.36277	.	.	ENSG00000163535	ENST00000357799	T	0.12984	2.63	5.45	3.63	0.41609	.	0.200831	0.35436	N	0.003203	T	0.11324	0.0276	L	0.46157	1.445	0.22457	N	0.999084	P;P;P	0.40332	0.713;0.713;0.713	B;B;B	0.36845	0.234;0.234;0.234	T	0.16247	-1.0409	10	0.25106	T	0.35	-3.3647	9.4882	0.38942	0.1632:0.0:0.8368:0.0	.	353;353;353	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	353	ENSP00000350447:D353N	ENSP00000350447:D353N	D	+	1	0	SGOL2	201144371	0.000000	0.05858	0.691000	0.30163	0.196000	0.23810	0.307000	0.19296	0.837000	0.34925	0.585000	0.79938	GAC		0.373	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	126	0	0	0	1	0	4	126				
CCIN	881	broad.mit.edu	37	9	36170825	36170825	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36170825C>T	ENST00000335119.2	+	1	1437	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTCCCGGGTCGGGGTAGTGG	0.552																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1324-1326)gtC>gtT		calicin							115.0	96.0	102.0					9																	36170825		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170825C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1326C>T	9.37:g.36170825C>T							p.V442V	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1437	+			442					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1326C>T	CCDS6599.1																																																																																				0.552	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		80	193	0	0	0	1	0	80	193				
OGG1	4968	broad.mit.edu	37	3	9798512	9798512	+	Intron	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9798512T>A	ENST00000344629.7	+	6	1291				OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000339511.5_Silent_p.P320P|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TGAGTGTACCTAGGTGTCCTC	0.572								Base excision repair (BER), DNA glycosylases																														ENST00000339511.5																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(958-960)ccT>ccA	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							88.0	92.0	91.0					3																	9798512		2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798512T>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.948+12T>A	3.37:g.9798512T>A						OGG1_ENST00000449570.2_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Intron	p.P320P	NM_016819.3	NP_058212.1	O15527	OGG1_HUMAN			6	1266	+	Medulloblastoma(99;0.227)		0		S -> T (in dbSNP:rs1801128).			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.960T>A	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	T	2.225	-0.377530	0.05000	.	.	ENSG00000114026	ENST00000441094	.	.	.	4.49	-1.64	0.08318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	5.7992	0.18403	0.0:0.3968:0.1559:0.4473	.	.	.	.	Q	218	.	.	L	+	2	0	OGG1	9773512	0.000000	0.05858	0.002000	0.10522	0.416000	0.31233	-0.654000	0.05354	-0.285000	0.09089	0.533000	0.62120	CTA		0.572	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		4	196	0	0	0	1	0	4	196				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652269	45652269	+	RNA	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr10:45652269G>A	ENST00000427229.2	+	0	1783																											CACCCTTGGCGGAAAGAACAC	0.473																																						ENST00000427229.2																			0																																																			0							g.chr10:45652269G>A																													10.37:g.45652269G>A														0	1783	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.473	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			4	105	0	0	0	1	0	4	105				
WIPI1	55062	broad.mit.edu	37	17	66430712	66430712	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430712C>A	ENST00000262139.5	-	7	676	c.677G>T	c.(676-678)cGg>cTg	p.R226L	WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	226					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CATCCCTCTCCGGAACTCATA	0.512																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(676-678)cGg>cTg		WD repeat domain, phosphoinositide interacting 1							95.0	92.0	93.0					17																	66430712		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430712C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.677G>T	17.37:g.66430712C>A	ENSP00000262139:p.Arg226Leu					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L	p.R226L	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			7	676	-			226					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.677G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322237	0.81580	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.52057	0.68;2.32	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116368	0.56097	D	0.000025	T	0.65565	0.2703	H	0.95043	3.615	0.80722	D	1	P	0.35328	0.495	B	0.35931	0.214	T	0.75673	-0.3236	10	0.72032	D	0.01	-15.4145	19.0599	0.93085	0.0:1.0:0.0:0.0	.	226	Q5MNZ9	WIPI1_HUMAN	L	226;144	ENSP00000262139:R226L;ENSP00000437345:R144L	ENSP00000262139:R226L	R	-	2	0	WIPI1	63942307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	CGG		0.512	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		57	181	1	0	7.41606e-26	1	8.2481e-26	57	181				
KLHL32	114792	broad.mit.edu	37	6	97423967	97423967	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:97423967A>G	ENST00000369261.4	+	3	481	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	40										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAGTGATGGCATCCTCTGCGA	0.507																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(118-120)Atc>Gtc		kelch-like family member 32							99.0	77.0	85.0					6																	97423967		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97423967A>G	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.118A>G	6.37:g.97423967A>G	ENSP00000358265:p.Ile40Val					KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V|KLHL32_ENST00000544166.1_5'UTR	p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	3	481	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	40					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.118A>G	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.865093	0.32977	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.14	3.98	0.46160	BTB/POZ (1);BTB/POZ fold (2);	0.319047	0.33834	N	0.004507	T	0.35158	0.0922	N	0.25201	0.72	0.80722	D	1	B;B;B;B	0.15719	0.0;0.0;0.014;0.008	B;B;B;B	0.19666	0.0;0.0;0.015;0.026	T	0.26744	-1.0094	10	0.30854	T	0.27	.	11.1181	0.48273	0.917:0.0:0.083:0.0	.	40;40;40;40	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	V	40	ENSP00000358265:I40V;ENSP00000440382:I40V;ENSP00000441527:I40V;ENSP00000358258:I40V	ENSP00000358258:I40V	I	+	1	0	KLHL32	97530688	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	2.905000	0.48727	2.159000	0.67721	0.482000	0.46254	ATC		0.507	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		4	118	0	0	0	1	0	4	118				
TRMT2A	27037	broad.mit.edu	37	22	20103778	20103778	+	Missense_Mutation	SNP	C	C	T	rs200653246		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:20103778C>T	ENST00000252136.7	-	2	770	c.382G>A	c.(382-384)Gtt>Att	p.V128I	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	128	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCATGCAAAACGCGCAGGGCC	0.647																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(382-384)Gtt>Att		tRNA methyltransferase 2 homolog A (S. cerevisiae)							47.0	48.0	47.0					22																	20103778		2203	4299	6502	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103778C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.382G>A	22.37:g.20103778C>T	ENSP00000252136:p.Val128Ile					RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I	p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	770	-			128			RRM.		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.382G>A	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.960083|2.960083	0.53400|0.53400	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	.|T;T;T;T;T	.|0.41758	.|3.17;3.17;3.17;3.17;0.99	5.68|5.68	4.67|4.67	0.58626|0.58626	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.189905	.|0.47093	.|D	.|0.000254	T|T	0.33962|0.33962	0.0881|0.0881	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.50369	.|0.934;0.003;0.0	.|B;B;B	.|0.43478	.|0.421;0.005;0.003	T|T	0.05402|0.05402	-1.0887|-1.0887	6|10	0.54805|0.27785	T|T	0.06|0.31	-28.7311|-28.7311	14.5387|14.5387	0.67979|0.67979	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|128;128;128	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	M|I	24|128;128;128;128;116	.|ENSP00000252136:V128I;ENSP00000385807:V128I;ENSP00000384968:V128I;ENSP00000395738:V128I;ENSP00000393911:V116I	ENSP00000404724:T24M|ENSP00000252136:V128I	T|V	+|-	2|1	0|0	RANBP1|TRMT2A	18483778|18483778	0.851000|0.851000	0.29673|0.29673	0.928000|0.928000	0.36995|0.36995	0.657000|0.657000	0.38888|0.38888	2.040000|2.040000	0.41203|0.41203	1.422000|1.422000	0.47177|0.47177	-0.424000|-0.424000	0.05967|0.05967	ACG|GTT		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		62	151	0	0	0	1	0	62	151				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	285	0	0	0	1	0	5	285				
HELZ	9931	broad.mit.edu	37	17	65163782	65163782	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:65163782T>A	ENST00000358691.5	-	14	1727	c.1561A>T	c.(1561-1563)Act>Tct	p.T521S	HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	521						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCAGCCAAAGTATCTTCAGAA	0.433																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1561-1563)Act>Tct		helicase with zinc finger							115.0	102.0	106.0					17																	65163782		1866	4114	5980	SO:0001583	missense	9931							g.chr17:65163782T>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1561A>T	17.37:g.65163782T>A	ENSP00000351524:p.Thr521Ser					HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	p.T521S	NM_014877.3	NP_055692.2					14	1727	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1561A>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885504	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.85484	-1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.56280	1.765	0.80722	D	1	D;P	0.76494	0.999;0.922	D;P	0.68192	0.956;0.655	D	0.90316	0.4341	10	0.52906	T	0.07	-16.6549	15.4547	0.75302	0.0:0.0:0.0:1.0	.	521;521	B7ZLW2;P42694	.;HELZ_HUMAN	S	521	ENSP00000351524:T521S	ENSP00000351524:T521S	T	-	1	0	HELZ	62594244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.662000	0.68032	2.045000	0.60652	0.460000	0.39030	ACT		0.433	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		11	378	0	0	0	1	0	11	378				
HDLBP	3069	broad.mit.edu	37	2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	rs199968516		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170.0	158.0	162.0					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	558	0	0	0	1	0	6	558				
PCSK5	5125	broad.mit.edu	37	9	78686787	78686787	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:78686787G>A	ENST00000545128.1	+	7	1405	c.867G>A	c.(865-867)cgG>cgA	p.R289R	PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	289	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCTCACCCGGCAAGCCTTTG	0.507																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(865-867)cgG>cgA		proprotein convertase subtilisin/kexin type 5							112.0	117.0	115.0					9																	78686787		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686787G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.867G>A	9.37:g.78686787G>A						PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1405	+			289			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.867G>A	CCDS55320.1																																																																																				0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	646	0	0	0	1	0	7	646				
ADRB2	154	broad.mit.edu	37	5	148206693	148206693	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:148206693C>G	ENST00000305988.4	+	1	538	c.299C>G	c.(298-300)aCt>aGt	p.T100S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	100					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	AAAATGTGGACTTTTGGCAAC	0.527																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(298-300)aCt>aGt		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						111.0	103.0	106.0					5																	148206693		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206693C>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.299C>G	5.37:g.148206693C>G	ENSP00000305372:p.Thr100Ser						p.T100S	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	538	+			100					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.299C>G	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702511	0.03255	.	.	ENSG00000169252	ENST00000305988	T	0.19105	2.17	5.4	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.415884	0.28459	N	0.015270	T	0.06508	0.0167	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.09590	T	0.72	.	4.9026	0.13782	0.5116:0.2522:0.1675:0.0686	.	100	P07550	ADRB2_HUMAN	S	100	ENSP00000305372:T100S	ENSP00000305372:T100S	T	+	2	0	ADRB2	148186886	0.024000	0.19004	0.917000	0.36280	0.995000	0.86356	0.638000	0.24674	-0.152000	0.11156	0.655000	0.94253	ACT		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		9	231	0	0	0	1	0	9	231				
MEOX1	4222	broad.mit.edu	37	17	41738449	41738449	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:41738449T>C	ENST00000318579.4	-	1	873	c.454A>G	c.(454-456)Aga>Gga	p.R152G	MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	152					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCTCCTTTCTCCGCCTGGAT	0.572																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(454-456)Aga>Gga		mesenchyme homeobox 1							197.0	196.0	196.0					17																	41738449		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738449T>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.454A>G	17.37:g.41738449T>C	ENSP00000321684:p.Arg152Gly					MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000549132.1_Silent_p.G122G	p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	873	-		Breast(137;0.00908)	152					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.454A>G	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857712	0.51376	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.91180	-2.8;0.64;-2.78	4.99	4.99	0.66335	.	0.048523	0.85682	D	0.000000	T	0.82135	0.4971	N	0.14661	0.345	0.37695	D	0.923982	B;B	0.29835	0.152;0.258	B;B	0.26969	0.023;0.075	T	0.83253	-0.0052	10	0.48119	T	0.1	-25.6858	13.4121	0.60948	0.0:0.0:0.0:1.0	.	152;152	Q15069;P50221	.;MEOX1_HUMAN	G	152;152;37	ENSP00000321684:R152G;ENSP00000328678:R152G;ENSP00000377271:R37G	ENSP00000321684:R152G	R	-	1	2	MEOX1	39093975	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.734000	0.74801	2.092000	0.63282	0.533000	0.62120	AGA		0.572	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			19	786	0	0	0	1	0	19	786				
ACSL4	2182	broad.mit.edu	37	X	108921610	108921610	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:108921610G>T	ENST00000469796.2	-	7	1209	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ACSL4_ENST00000340800.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	271					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CAATGGCCATGTCTGAAGGCG	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(811-813)gaC>gaA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						131.0	111.0	118.0					X																	108921610		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108921610G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.813C>A	X.37:g.108921610G>T	ENSP00000419171:p.Asp271Glu					ACSL4_ENST00000469796.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E	p.D271E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			8	1317	-			271					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.813C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875527	0.72180	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.8	0.43715	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.92412	3.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.50734	-0.8793	10	0.87932	D	0	-16.4258	8.8404	0.35137	0.2351:0.0:0.7649:0.0	.	271	O60488	ACSL4_HUMAN	E	230;271;271	ENSP00000262835:D230E;ENSP00000419171:D271E;ENSP00000339787:D271E	ENSP00000339787:D271E	D	-	3	2	ACSL4	108808266	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.011000	0.40922	0.533000	0.28675	0.600000	0.82982	GAC		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		59	359	1	0	2.02627e-32	1	2.27581e-32	59	359				
CFAP45	25790	broad.mit.edu	37	1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:159850480C>T	ENST00000368099.4	-	8	972	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CCDC19_ENST00000426543.2_Missense_Mutation_p.R218Q|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(652-654)cGa>cAa		coiled-coil domain containing 19							103.0	88.0	93.0					1																	159850480		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159850480C>T																												ENST00000368099.4:c.908G>A	1.37:g.159850480C>T	ENSP00000357079:p.Arg303Gln					CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q|CCDC19_ENST00000476696.1_5'UTR	p.R218Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	1108	-	all_hematologic(112;0.0597)		303						Missense_Mutation	SNP	ENST00000368099.4	37	c.653G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	1.086	-0.665561	0.03428	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10099	2.91;2.91	4.94	-0.338	0.12651	.	0.596147	0.17329	N	0.178193	T	0.01730	0.0055	N	0.16567	0.415	0.21915	N	0.999471	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.45629	-0.9248	9	.	.	.	-0.0898	11.3354	0.49500	0.0:0.6301:0.0:0.3699	.	303;303	A8K884;Q9UL16	.;CCD19_HUMAN	Q	303;218	ENSP00000357079:R303Q;ENSP00000403044:R218Q	.	R	-	2	0	CCDC19	158117104	0.000000	0.05858	0.194000	0.23346	0.168000	0.22595	-0.761000	0.04751	-0.337000	0.08426	-1.786000	0.00637	CGA		0.478	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			5	305	0	0	0	1	0	5	305				
OR56A3	390083	broad.mit.edu	37	11	5969013	5969013	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5969013T>A	ENST00000329564.6	+	1	444	c.437T>A	c.(436-438)gTc>gAc	p.V146D	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTTGTAGTCAAGGCTGCC	0.448																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(436-438)gTc>gAc		olfactory receptor, family 56, subfamily A, member 3							150.0	148.0	149.0					11																	5969013		2200	4296	6496	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969013T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.437T>A	11.37:g.5969013T>A	ENSP00000331572:p.Val146Asp						p.V146D	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	146					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.437T>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	4.194	0.034682	0.08101	.	.	ENSG00000184478	ENST00000329564	T	0.39406	1.08	5.13	-0.302	0.12796	GPCR, rhodopsin-like superfamily (1);	0.277746	0.18223	U	0.147820	T	0.43809	0.1264	M	0.82056	2.57	0.18873	N	0.999989	B	0.26041	0.14	B	0.34779	0.189	T	0.48927	-0.8991	10	0.72032	D	0.01	-6.0991	5.5314	0.16987	0.1326:0.4555:0.0:0.4119	.	146	Q8NH54	O56A3_HUMAN	D	146	ENSP00000331572:V146D	ENSP00000331572:V146D	V	+	2	0	OR56A3	5925589	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.036000	0.00308	-0.225000	0.09913	-1.200000	0.01667	GTC		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		147	309	0	0	0	1	0	147	309				
KCNC1	3746	broad.mit.edu	37	11	17794037	17794037	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:17794037C>A	ENST00000379472.3	+	2	1426	c.1396C>A	c.(1396-1398)Ctg>Atg	p.L466M	KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	466					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)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCACCGCAGCTGGGATCTCC	0.448																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1396-1398)Ctg>Atg		potassium voltage-gated channel, Shaw-related subfamily, member 1							51.0	59.0	56.0					11																	17794037		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794037C>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1396C>A	11.37:g.17794037C>A	ENSP00000368785:p.Leu466Met					KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1426	+			466					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1396C>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639495	0.29157	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97279	-4.32;-4.3	5.24	5.24	0.73138	.	0.155348	0.45606	D	0.000355	D	0.96978	0.9013	L	0.39020	1.185	0.49915	D	0.999838	B;D	0.60160	0.116;0.987	B;P	0.61070	0.062;0.883	D	0.96559	0.9414	10	0.35671	T	0.21	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	466;466	Q3KNS8;P48547	.;KCNC1_HUMAN	M	466	ENSP00000265969:L466M;ENSP00000368785:L466M	ENSP00000265969:L466M	L	+	1	2	KCNC1	17750613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.445000	0.82738	0.561000	0.74099	CTG		0.448	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		87	172	1	0	1.01459e-35	1	1.14519e-35	87	172				
JAKMIP2	9832	broad.mit.edu	37	5	147040819	147040819	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:147040819G>C	ENST00000265272.5	-	3	786	c.319C>G	c.(319-321)Cgt>Ggt	p.R107G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	107						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCATCACGTACCTTCACC	0.557																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(319-321)Cgt>Ggt		janus kinase and microtubule interacting protein 2							187.0	176.0	180.0					5																	147040819		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040819G>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.319C>G	5.37:g.147040819G>C	ENSP00000265272:p.Arg107Gly					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G	p.R107G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	786	-			107					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.319C>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126056	0.20959	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35421	1.31;1.31;1.31	4.67	3.71	0.42584	.	0.059973	0.64402	D	0.000003	T	0.24160	0.0585	N	0.24115	0.695	0.38983	D	0.95898	B;B;B;B	0.32396	0.15;0.369;0.369;0.239	B;B;B;B	0.29176	0.045;0.099;0.099;0.099	T	0.23013	-1.0200	10	0.66056	D	0.02	.	12.4034	0.55426	0.0:0.0:0.6863:0.3137	.	65;107;107;107	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	107;107;65;107	ENSP00000421398:R107G;ENSP00000265272:R107G;ENSP00000328989:R65G	ENSP00000265272:R107G	R	-	1	0	JAKMIP2	147021012	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.826000	0.62715	2.529000	0.85273	0.563000	0.77884	CGT		0.557	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		439	430	0	0	0	1	0	439	430				
RAD52	5893	broad.mit.edu	37	12	1023204	1023204	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:1023204G>C	ENST00000358495.3	-	11	1189	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	351					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCTGGGCTGGGTCTGCTCTA	0.527								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1051-1053)Cca>Gca	Homologous recombination	RAD52 homolog (S. cerevisiae)							142.0	132.0	135.0					12																	1023204		1987	4151	6138	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023204G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1051C>G	12.37:g.1023204G>C	ENSP00000351284:p.Pro351Ala					RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000535376.1_5'UTR	p.P351A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1189	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		351					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1051C>G	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438716	0.25900	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.36878	1.65;1.65;1.23	5.11	1.13	0.20643	.	0.341611	0.34245	N	0.004125	T	0.28001	0.0690	L	0.52364	1.645	0.19300	N	0.999976	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	10	0.59425	D	0.04	-14.8336	6.5135	0.22234	0.163:0.2837:0.5532:0.0	.	351	P43351	RAD52_HUMAN	A	351;351;274	ENSP00000351284:P351A;ENSP00000387901:P351A;ENSP00000445245:P274A	ENSP00000351284:P351A	P	-	1	0	RAD52	893465	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.129000	0.10515	0.378000	0.24764	0.561000	0.74099	CCA		0.527	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		9	346	0	0	0	1	0	9	346				
DRC1	92749	broad.mit.edu	37	2	26677522	26677522	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:26677522C>T	ENST00000288710.2	+	15	2001	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	643					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAGGGACTCGCGGGCCCCGCT	0.592																																						ENST00000288710.2																			0											c.(1927-1929)Cgg>Tgg		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							82.0	77.0	79.0					2																	26677522		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26677522C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1927C>T	2.37:g.26677522C>T	ENSP00000288710:p.Arg643Trp						p.R643W	NM_145038.2	NP_659475.2					15	2001	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1927C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	c	9.094	1.002383	0.19121	.	.	ENSG00000157856	ENST00000288710	T	0.15487	2.42	4.72	-1.33	0.09172	.	1.880020	0.02011	N	0.046989	T	0.10895	0.0266	N	0.16307	0.4	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30297	-0.9983	10	0.51188	T	0.08	-2.2731	4.0988	0.10004	0.2492:0.3741:0.0:0.3767	.	643	Q96MC2	CC164_HUMAN	W	643	ENSP00000288710:R643W	ENSP00000288710:R643W	R	+	1	2	CCDC164	26531026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-0.168000	0.10853	-1.788000	0.00630	CGG		0.592	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		5	279	0	0	0	1	0	5	279				
CARM1	10498	broad.mit.edu	37	19	11022882	11022882	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:11022882G>A	ENST00000327064.4	+	5	771	c.581G>A	c.(580-582)gGc>gAc	p.G194D	CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	194	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTGGCTGTGGCTCTGGGATC	0.592																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(580-582)gGc>gAc		coactivator-associated arginine methyltransferase 1							351.0	279.0	303.0					19																	11022882		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022882G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.581G>A	19.37:g.11022882G>A	ENSP00000325690:p.Gly194Asp					CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	771	+			194					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.581G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987583	0.93106	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.77620	-1.11;-1.11	5.67	4.64	0.57946	.	0.058076	0.64402	N	0.000002	D	0.93354	0.7881	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95477	0.8557	10	0.87932	D	0	-4.2354	13.3148	0.60401	0.077:0.0:0.923:0.0	.	194	Q86X55	CARM1_HUMAN	D	194	ENSP00000325690:G194D;ENSP00000340934:G194D	ENSP00000325690:G194D	G	+	2	0	CARM1	10883882	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.233000	0.95337	1.403000	0.46800	0.655000	0.94253	GGC		0.592	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		29	1221	0	0	0	1	0	29	1221				
UCP3	7352	broad.mit.edu	37	11	73718034	73718034	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:73718034C>T	ENST00000314032.4	-	2	606	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	18					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGCCTGCCCCCAGGAACTTCA	0.597																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(52-54)ctG>ctA		uncoupling protein 3 (mitochondrial, proton carrier)							100.0	76.0	84.0					11																	73718034		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73718034C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.54G>A	11.37:g.73718034C>T						UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			2	606	-	Breast(11;2.08e-05)		18					O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.54G>A	CCDS8229.1																																																																																				0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		41	83	0	0	0	1	0	41	83				
RND3	390	broad.mit.edu	37	2	151326505	151326505	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:151326505A>G	ENST00000375734.2	-	5	980	c.731T>C	c.(730-732)aTg>aCg	p.M244T	RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T|RND3_ENST00000472416.1_5'Flank	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	244					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AAAGATTCACATCACAGTGCA	0.423																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(730-732)aTg>aCg		Rho family GTPase 3							98.0	91.0	93.0					2																	151326505		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326505A>G		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.731T>C	2.37:g.151326505A>G	ENSP00000364886:p.Met244Thr					RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T	p.M244T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	980	-			244					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.731T>C	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498553	0.64298	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68624	-0.34;-0.34;2.26	5.81	5.81	0.92471	.	0.033764	0.85682	D	0.000000	T	0.75517	0.3860	M	0.64404	1.975	0.80722	D	1	P;D;D	0.55800	0.597;0.973;0.973	P;P;P	0.55345	0.774;0.663;0.663	T	0.78560	-0.2157	10	0.87932	D	0	-26.2874	15.3525	0.74399	1.0:0.0:0.0:0.0	.	107;243;244	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	244;244;115	ENSP00000364886:M244T;ENSP00000263895:M244T;ENSP00000386576:M115T	ENSP00000263895:M244T	M	-	2	0	RND3	151034751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	2.221000	0.72209	0.528000	0.53228	ATG		0.423	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		91	82	0	0	0	1	0	91	82				
ABCA4	24	broad.mit.edu	37	1	94578575	94578575	+	Silent	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:94578575G>C	ENST00000370225.3	-	2	200	c.114C>G	c.(112-114)gtC>gtG	p.V38V	ABCA4_ENST00000535735.1_Silent_p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	38					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCAGATCAAGACCAGAAATA	0.443																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(112-114)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 4							118.0	109.0	112.0					1																	94578575		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94578575G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.114C>G	1.37:g.94578575G>C						ABCA4_ENST00000535735.1_Silent_p.V38V	p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	2	200	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	38					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.114C>G	CCDS747.1																																																																																				0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		60	287	0	0	0	1	0	60	287				
DAAM2	23500	broad.mit.edu	37	6	39866704	39866704	+	Silent	SNP	G	G	A	rs370996980	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:39866704G>A	ENST00000398904.2	+	22	2852	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Silent_p.A890A|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	890	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCTGAGAGCGGTGGAGGTGG	0.577													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2668-2670)gcG>gcA		dishevelled associated activator of morphogenesis 2		G	,	1,4139		0,1,2069	87.0	104.0	98.0		2670,2670	-10.7	0.3	6		98	0,8426		0,0,4213	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6282	AA,AG,GG		0.0,0.0242,0.0080	,	890/1069,890/1068	39866704	1,12565	2070	4213	6283	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39866704G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2670G>A	6.37:g.39866704G>A						RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A|DAAM2_ENST00000398904.2_Silent_p.A890A	p.A890A	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			22	2852	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		890			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2670G>A	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			11	40	0	0	0	1	0	11	40				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	156	0	0	0	1	0	7	156				
KCNQ5	56479	broad.mit.edu	37	6	73834247	73834247	+	Intron	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:73834247C>A	ENST00000370398.1	+	9	1356				KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S420Y|KCNQ5_ENST00000402622.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5						protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTGTGATTTCTCTCTTGCTA	0.358																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370392.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1258-1260)tCt>tAt		potassium voltage-gated channel, KQT-like subfamily, member 5							186.0	172.0	177.0					6																	73834247		2203	4300	6503	SO:0001627	intron_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834247C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1247+12C>A	6.37:g.73834247C>A						KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron	p.S420Y			Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1343	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	0					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1259C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495565	0.44352	.	.	ENSG00000185760	ENST00000370392	D	0.99167	-5.51	5.37	4.44	0.53790	.	.	.	.	.	D	0.95185	0.8439	.	.	.	0.80722	D	1	B	0.28605	0.217	B	0.31946	0.138	D	0.92822	0.6273	7	.	.	.	.	8.6158	0.33831	0.1695:0.6666:0.1639:0.0	.	420	Q9NR82-4	.	Y	420	ENSP00000359419:S420Y	.	S	+	2	0	KCNQ5	73890968	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.948000	0.40303	2.648000	0.89879	0.655000	0.94253	TCT		0.358	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		42	88	1	0	1.56793e-16	1	1.70232e-16	42	88				
CCDC58	131076	broad.mit.edu	37	3	122081856	122081856	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:122081856C>T	ENST00000291458.5	-	4	349	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	115						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		ACATTCAGTTCTGACTGCATC	0.313																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.(343-345)Gaa>Aaa		coiled-coil domain containing 58							88.0	84.0	85.0					3																	122081856		2202	4300	6502	SO:0001583	missense	131076							g.chr3:122081856C>T	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.343G>A	3.37:g.122081856C>T	ENSP00000291458:p.Glu115Lys					CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K|CCDC58_ENST00000466854.1_5'UTR	p.E115K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	4	349	-			115					Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	c.343G>A	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821041|4.821041	0.90873|0.90873	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000497726;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.89287|0.89287	3.02|3.02	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85748|0.85748	0.1341|0.1341	9|5	0.87932|.	D|.	0|.	.|.	15.8232|15.8232	0.78676|0.78676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|.	Q4VC31|.	CCD58_HUMAN|.	K|K	115;24;101|111	.|.	ENSP00000291458:E115K|.	E|R	-|-	1|2	0|0	CCDC58|CCDC58	123564546|123564546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.444000|6.444000	0.73452|0.73452	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.313	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928		59	129	0	0	0	1	0	59	129				
NBPF1	55672	broad.mit.edu	37	1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25.0	21.0	22.0					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		11	1933	0	0	0	1	0	11	1933				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	167	0	0	0	1	0	7	167				
AMBP	259	broad.mit.edu	37	9	116837247	116837247	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:116837247G>C	ENST00000265132.3	-	3	592	c.330C>G	c.(328-330)caC>caG	p.H110Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	110					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TACTGGATTTGTGATAGAGAA	0.438																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(328-330)caC>caG		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						177.0	151.0	160.0					9																	116837247		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116837247G>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.330C>G	9.37:g.116837247G>C	ENSP00000265132:p.His110Gln						p.H110Q	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			3	592	-			110					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.330C>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195027	0.58017	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.07444	3.19	5.43	2.45	0.29901	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.579014	0.19553	N	0.111528	T	0.19406	0.0466	M	0.83953	2.67	0.37815	D	0.928163	D;D	0.60575	0.988;0.966	P;P	0.56343	0.796;0.617	T	0.05084	-1.0907	10	0.38643	T	0.18	.	4.7856	0.13223	0.1675:0.0:0.6611:0.1713	.	51;110	B7Z8R6;P02760	.;AMBP_HUMAN	Q	110;51	ENSP00000265132:H110Q	ENSP00000265132:H110Q	H	-	3	2	AMBP	115877068	0.031000	0.19500	0.934000	0.37439	0.845000	0.48019	0.132000	0.15891	0.686000	0.31488	0.561000	0.74099	CAC		0.438	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		86	209	0	0	0	1	0	86	209				
PAPPA2	60676	broad.mit.edu	37	1	176564265	176564265	+	Silent	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176564265T>C	ENST00000367662.3	+	3	2689	c.1525T>C	c.(1525-1527)Ttg>Ctg	p.L509L	PAPPA2_ENST00000367661.3_Silent_p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	509	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAATGTGGAATTGATCTCCCA	0.537																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1525-1527)Ttg>Ctg		pappalysin 2							56.0	57.0	56.0					1																	176564265		1976	4162	6138	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564265T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1525T>C	1.37:g.176564265T>C						PAPPA2_ENST00000367661.3_Silent_p.L509L	p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2689	+			509			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1525T>C	CCDS41438.1																																																																																				0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			66	236	0	0	0	1	0	66	236				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	148	0	0	0	1	0	4	148				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	100	0	0	0	1	0	4	100				
ZNF600	162966	broad.mit.edu	37	19	53270312	53270312	+	Missense_Mutation	SNP	G	G	T	rs566513144		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53270312G>T	ENST00000338230.3	-	3	964	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGCATGTAAGGGATGATACC	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(697-699)Ctt>Att		zinc finger protein 600																																				SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270312G>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.697C>A	19.37:g.53270312G>T	ENSP00000344791:p.Leu233Ile						p.L233I	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	964	-			233					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.697C>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.250086	0.59212	.	.	ENSG00000189190	ENST00000338230	T	0.10860	2.83	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37019	0.0988	M	0.89715	3.055	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.08066	-1.0740	9	0.87932	D	0	.	10.1661	0.42882	0.0:0.0:1.0:0.0	.	233	Q6ZNG1	ZN600_HUMAN	I	233	ENSP00000344791:L233I	ENSP00000344791:L233I	L	-	1	0	ZNF600	57962124	0.152000	0.22762	0.093000	0.20910	0.519000	0.34347	2.239000	0.43079	0.888000	0.36160	0.313000	0.20887	CTT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		36	523	1	0	1.07637e-12	1	1.15217e-12	36	523				
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	rs201055589		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63.0	41.0	49.0					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	107	0	0	0	1	0	7	107				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	135	1	0	3.59834e-05	1	3.72918e-05	6	135				
NOS3	4846	broad.mit.edu	37	7	150699033	150699033	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150699033C>T	ENST00000484524.1	+	12	1627	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000297494.3_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACTCTTCCGGAAGGCTTT	0.632																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1627-1629)Cgg>Tgg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						35.0	39.0	38.0					7																	150699033		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699033C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1627C>T	7.37:g.150699033C>T	ENSP00000420215:p.Arg543Trp					NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000484524.1_Missense_Mutation_p.R543W|NOS3_ENST00000467517.1_Missense_Mutation_p.R543W	p.R543W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1984	+	all_neural(206;0.219)		543			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1627C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660722	0.67700	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.8	3.9	0.45041	Flavodoxin/nitric oxide synthase (2);	0.118708	0.35772	N	0.002998	D	0.86230	0.5883	M	0.88377	2.95	0.33655	D	0.609001	D;D;D;D;D	0.76494	0.999;0.999;0.988;0.997;0.997	D;D;D;D;P	0.70716	0.917;0.97;0.97;0.948;0.892	D	0.90621	0.4559	10	0.72032	D	0.01	-20.3273	10.4856	0.44719	0.3522:0.6478:0.0:0.0	.	543;543;543;337;543	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	543;337;543;543	ENSP00000297494:R543W;ENSP00000417143:R337W;ENSP00000420215:R543W;ENSP00000420551:R543W	ENSP00000297494:R543W	R	+	1	2	NOS3	150329966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.991000	0.29654	1.123000	0.41961	0.655000	0.94253	CGG		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		164	212	0	0	0	1	0	164	212				
EXTL3	2137	broad.mit.edu	37	8	28575489	28575489	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28575489C>A	ENST00000220562.4	+	3	2815	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	638					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCTTTCGGCCTATTGGTGGT	0.557																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1912-1914)cCt>cAt		exostosin-like glycosyltransferase 3							81.0	80.0	80.0					8																	28575489		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575489C>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1913C>A	8.37:g.28575489C>A	ENSP00000220562:p.Pro638His					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	p.P638H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2815	+		Ovarian(32;0.069)	638					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1913C>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896758	0.72639	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97016	-3.64;-4.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98335	1.0535	10	0.87932	D	0	-20.1467	20.2982	0.98569	0.0:1.0:0.0:0.0	.	638	O43909	EXTL3_HUMAN	H	254;638	ENSP00000428691:P254H;ENSP00000220562:P638H	ENSP00000220562:P638H	P	+	2	0	EXTL3	28631408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.567000	0.82357	2.873000	0.98535	0.563000	0.77884	CCT		0.557	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		72	213	1	0	5.44642e-36	1	6.17803e-36	72	213				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		13	97	0	0	0	1	0	13	97				
THOC5	8563	broad.mit.edu	37	22	29915009	29915009	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:29915009T>C	ENST00000490103.1	-	15	1597	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	492					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGATGCAAACTGTTTGTGGAG	0.507																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1474-1476)cAg>cGg		THO complex 5							231.0	197.0	209.0					22																	29915009		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915009T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1475A>G	22.37:g.29915009T>C	ENSP00000420306:p.Gln492Arg					CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R	p.Q492R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			15	1597	-			492					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1475A>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858213	0.91433	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.29274	-1.0017	10	0.45353	T	0.12	-17.1228	15.0502	0.71862	0.0:0.0:0.0:1.0	.	492	Q13769	THOC5_HUMAN	R	492	ENSP00000420306:Q492R;ENSP00000380970:Q492R;ENSP00000380969:Q492R;ENSP00000380971:Q492R	ENSP00000380969:Q492R	Q	-	2	0	THOC5	28245009	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.779000	0.85648	2.201000	0.70794	0.533000	0.62120	CAG		0.507	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		59	577	0	0	0	1	0	59	577				
RNF38	152006	broad.mit.edu	37	9	36351150	36351150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351150C>T	ENST00000259605.6	-	9	1332	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000357058.3_Missense_Mutation_p.E326K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K|RNF38_ENST00000353739.4_Missense_Mutation_p.E359K	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	409					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACATCTAATTCAAAGCTGAAA	0.358																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(976-978)Gaa>Aaa		ring finger protein 38							82.0	78.0	79.0					9																	36351150		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351150C>T		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1225G>A	9.37:g.36351150C>T	ENSP00000259605:p.Glu409Lys					RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000259605.6_Missense_Mutation_p.E409K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K	p.E326K	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1582	-			409			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.976G>A	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451466	0.84209	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	L	0.40543	1.245	0.80722	D	1	P;B;P	0.47910	0.82;0.38;0.902	P;B;P	0.46110	0.504;0.291;0.504	T	0.54596	-0.8270	10	0.54805	T	0.06	-6.5436	16.4624	0.84064	0.0:1.0:0.0:0.0	.	333;359;409	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	K	409;359;326;326;326;226;333;333	ENSP00000259605:E409K;ENSP00000335239:E359K;ENSP00000367117:E326K;ENSP00000349566:E326K;ENSP00000343947:E326K;ENSP00000367109:E333K	ENSP00000259605:E409K	E	-	1	0	RNF38	36341150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.061000	0.76699	2.553000	0.86117	0.563000	0.77884	GAA		0.358	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		25	53	0	0	0	1	0	25	53				
CYP8B1	1582	broad.mit.edu	37	3	42917299	42917299	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:42917299A>C	ENST00000316161.4	-	1	334	c.10T>G	c.(10-12)Tgg>Ggg	p.W4G	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	4					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACTGGACCCCAGAGAACCATG	0.592																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(10-12)Tgg>Ggg		cytochrome P450, family 8, subfamily B, polypeptide 1							30.0	31.0	31.0					3																	42917299		2191	4282	6473	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42917299A>C	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.10T>G	3.37:g.42917299A>C	ENSP00000318867:p.Trp4Gly					KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G|ACKR2_ENST00000471537.1_Intron	p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	334	-			4					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.10T>G	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634875	0.47049	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74947	-0.73;-0.89	4.89	4.89	0.63831	.	0.287902	0.27513	N	0.019032	T	0.71281	0.3321	N	0.08118	0	0.32807	D	0.500855	D;D	0.76494	0.999;0.988	D;P	0.63488	0.915;0.779	T	0.80111	-0.1519	10	0.87932	D	0	-13.3635	13.6159	0.62108	1.0:0.0:0.0:0.0	.	4;4	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	G	4	ENSP00000404499:W4G;ENSP00000318867:W4G	ENSP00000318867:W4G	W	-	1	0	CYP8B1	42892303	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	5.950000	0.70265	2.064000	0.61679	0.459000	0.35465	TGG		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		58	81	0	0	0	1	0	58	81				
FRG1B	284802	broad.mit.edu	37	20	29628264	29628264	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:29628264T>A	ENST00000278882.3	+	6	646	c.266T>A	c.(265-267)aTt>aAt	p.I89N	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94N|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGCTGCTTTATTAGATGCAAT	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)aTt>aAt																																						SO:0001583	missense	0							g.chr20:29628264T>A			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.266T>A	20.37:g.29628264T>A	ENSP00000278882:p.Ile89Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94N|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89N	p.I89N							6	646	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.266T>A		.	.	.	.	.	.	.	.	.	.	t	18.04	3.534926	0.64972	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53423	0.62	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.62829	0.2460	.	.	.	0.43988	D	0.996688	D;D	0.71674	0.993;0.998	D;D	0.75484	0.986;0.982	T	0.64927	-0.6292	9	0.87932	D	0	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	89;94;89	ENSP00000408863:I94N	ENSP00000278882:I89N	I	+	2	0	FRG1B	28241925	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	427	0	0	0	1	0	7	427				
MISP	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:757669C>T	ENST00000215582.6	+	2	826	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	241					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACCTGGCCAACGGGCACGTGG	0.672																																						ENST00000215582.6																			0											c.(721-723)aaC>aaT		mitotic spindle positioning							24.0	27.0	26.0					19																	757669		2203	4300	6503	SO:0001819	synonymous_variant	126353							g.chr19:757669C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.723C>T	19.37:g.757669C>T							p.N241N	NM_173481.2	NP_775752.1					2	826	+									Silent	SNP	ENST00000215582.6	37	c.723C>T	CCDS12042.1																																																																																				0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		25	68	0	0	0	1	0	25	68				
B4GALNT2	124872	broad.mit.edu	37	17	47230177	47230177	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:47230177C>T	ENST00000300404.2	+	4	608	c.549C>T	c.(547-549)cgC>cgT	p.R183R	B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	183					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGCTGCCCCGCCCACTGCCCC	0.617																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(547-549)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 2							39.0	29.0	32.0					17																	47230177		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47230177C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.549C>T	17.37:g.47230177C>T						B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	p.R183R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		4	608	+			183					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.549C>T	CCDS11544.1																																																																																				0.617	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		13	26	0	0	0	1	0	13	26				
STXBP5	134957	broad.mit.edu	37	6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189.0	181.0	184.0					6																	147685192		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	542	0	0	0	1	0	6	542				
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423																																						ENST00000334181.4																			2	Substitution - coding silent(2)	p.H369H(1)|p.H456H(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1366-1368)caC>caT		zinc finger protein 749							93.0	89.0	91.0					19																	57955884		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955884C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1368C>T	19.37:g.57955884C>T						AC004076.9_ENST00000596831.1_Intron	p.H456H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1618	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Silent	SNP	ENST00000334181.4	37	c.1368C>T	CCDS33132.2																																																																																				0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		5	269	0	0	0	1	0	5	269				
BIK	638	broad.mit.edu	37	22	43524566	43524566	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:43524566G>C	ENST00000216115.2	+	4	388	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	109					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				AAGTTTCATGGACGGTTTCAC	0.517																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(325-327)Gac>Cac		BCL2-interacting killer (apoptosis-inducing)							130.0	126.0	128.0					22																	43524566		2203	4300	6503	SO:0001583	missense	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43524566G>C	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.325G>C	22.37:g.43524566G>C	ENSP00000216115:p.Asp109His						p.D109H	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			4	388	+		Ovarian(80;0.0694)	109					Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	37	c.325G>C	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929535	0.34096	.	.	ENSG00000100290	ENST00000216115	T	0.25414	1.8	3.65	-1.33	0.09172	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.16958	-1.0385	9	0.38643	T	0.18	2.1384	4.952	0.14019	0.2262:0.357:0.4168:0.0	.	109	Q13323	BIK_HUMAN	H	109	ENSP00000216115:D109H	ENSP00000216115:D109H	D	+	1	0	BIK	41854510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.087000	0.12528	0.462000	0.41574	GAC		0.517	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		141	136	0	0	0	1	0	141	136				
KNSTRN	90417	broad.mit.edu	37	15	40682085	40682085	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:40682085C>T	ENST00000249776.8	+	6	755	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KNSTRN_ENST00000608100.1_Missense_Mutation_p.R136W|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W|KNSTRN_ENST00000416151.2_Missense_Mutation_p.R214W	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GGAGAAGTTTCGGGACAACTG	0.522																																						ENST00000416151.2																			0											c.(640-642)Cgg>Tgg		kinetochore-localized astrin/SPAG5 binding protein							128.0	136.0	134.0					15																	40682085		2002	4179	6181	SO:0001583	missense	90417							g.chr15:40682085C>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.640C>T	15.37:g.40682085C>T	ENSP00000249776:p.Arg214Trp					KNSTRN_ENST00000249776.8_Missense_Mutation_p.R214W|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W	p.R214W	NM_001142761.1	NP_001136233.1					6	755	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.640C>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529534	0.85706	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.26067	1.76;1.76;1.76	5.21	5.21	0.72293	.	0.159640	0.43579	D	0.000542	T	0.23330	0.0564	N	0.08118	0	0.27533	N	0.951024	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.53649	0.731;0.731;0.648	T	0.09751	-1.0660	10	0.72032	D	0.01	-4.4014	14.1201	0.65182	0.0:1.0:0.0:0.0	.	214;214;214	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	W	214	ENSP00000249776:R214W;ENSP00000391233:R214W;ENSP00000393001:R214W	ENSP00000249776:R214W	R	+	1	2	C15orf23	38469377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.416000	0.44644	2.696000	0.92011	0.655000	0.94253	CGG		0.522	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		97	200	0	0	0	1	0	97	200				
CPEB1	64506	broad.mit.edu	37	15	83215935	83215935	+	Missense_Mutation	SNP	G	G	T	rs374011661		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83215935G>T	ENST00000562019.1	-	10	1783	c.1467C>A	c.(1465-1467)agC>agA	p.S489R	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000563800.1_Missense_Mutation_p.S511R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	489	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAGCAGCGCTGACTGCTT	0.463																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1531-1533)agC>agA		cytoplasmic polyadenylation element binding protein 1							92.0	87.0	89.0					15																	83215935		1918	4146	6064	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215935G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1467C>A	15.37:g.83215935G>T	ENSP00000457836:p.Ser489Arg					RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000562019.1_Missense_Mutation_p.S489R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R	p.S511R			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		10	3258	-			489			Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1533C>A		.	.	.	.	.	.	.	.	.	.	g	14.03	2.412804	0.42817	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.18	-2.21	0.06973	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.284954	0.37348	U	0.002129	T	0.10723	0.0262	N	0.14661	0.345	0.44736	D	0.997731	B;B;B;B	0.25351	0.124;0.024;0.021;0.024	B;B;B;B	0.20184	0.015;0.01;0.028;0.01	T	0.08493	-1.0719	10	0.54805	T	0.06	-7.0429	11.4101	0.49921	0.5705:0.0:0.4295:0.0	.	487;484;489;484	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	484;484;409;414;487;258	ENSP00000397526:S409R;ENSP00000381591:S414R;ENSP00000261723:S487R;ENSP00000381592:S258R	ENSP00000261723:S487R	S	-	3	2	CPEB1	81012990	0.145000	0.22656	0.984000	0.44739	0.985000	0.73830	-0.371000	0.07513	-0.518000	0.06452	-0.423000	0.05987	AGC		0.463	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		207	169	1	0	3.20401e-112	1	3.68947e-112	207	169				
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141.0	161.0	154.0					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		6	809	0	0	0	1	0	6	809				
L3MBTL2	83746	broad.mit.edu	37	22	41620150	41620150	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:41620150T>A	ENST00000216237.5	+	9	1227	c.1069T>A	c.(1069-1071)Tac>Aac	p.Y357N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	357					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGCTCCTCTACGAGGATGG	0.612																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1069-1071)Tac>Aac		l(3)mbt-like 2 (Drosophila)							75.0	67.0	70.0					22																	41620150		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620150T>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1069T>A	22.37:g.41620150T>A	ENSP00000216237:p.Tyr357Asn						p.Y357N	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1227	+			357					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1069T>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987915	0.93106	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72947	-0.4137	10	0.87932	D	0	.	15.1768	0.72920	0.0:0.0:0.0:1.0	.	357;357	Q969R5-3;Q969R5	.;LMBL2_HUMAN	N	357	ENSP00000216237:Y357N	ENSP00000216237:Y357N	Y	+	1	0	L3MBTL2	39950096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.305000	0.72805	2.008000	0.58898	0.533000	0.62120	TAC		0.612	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		119	169	0	0	0	1	0	119	169				
GIMAP1	170575	broad.mit.edu	37	7	150417597	150417597	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150417597A>C	ENST00000307194.5	+	3	645	c.505A>C	c.(505-507)Aca>Cca	p.T169P		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	169	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGAGCAACACAGAGAACCG	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(505-507)Aca>Cca		GTPase, IMAP family member 1							53.0	56.0	55.0					7																	150417597		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417597A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.505A>C	7.37:g.150417597A>C	ENSP00000302833:p.Thr169Pro						p.T169P	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	645	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.505A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407461	0.25378	.	.	ENSG00000213203	ENST00000307194	T	0.60672	0.17	4.81	1.04	0.20106	AIG1 (1);	0.325956	0.28431	U	0.015380	T	0.63307	0.2500	M	0.64170	1.965	0.09310	N	1	P	0.47910	0.902	P	0.61397	0.888	T	0.53493	-0.8431	10	0.56958	D	0.05	.	3.4499	0.07494	0.5502:0.0:0.0968:0.353	.	169	Q8WWP7	GIMA1_HUMAN	P	169	ENSP00000302833:T169P	ENSP00000302833:T169P	T	+	1	0	GIMAP1	150048530	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.636000	0.24644	0.033000	0.15463	-0.309000	0.09137	ACA		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		86	325	0	0	0	1	0	86	325				
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378																																						ENST00000557922.1																			0																																																			0							g.chr15:23108883T>C																													15.37:g.23108883T>C								NR_040057.1						0	246	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.378	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			4	142	0	0	0	1	0	4	142				
DMRTA2	63950	broad.mit.edu	37	1	50884890	50884890	+	Missense_Mutation	SNP	G	G	A	rs533329963	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:50884890G>A	ENST00000404795.3	-	3	1468	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	359	Ala-rich.|Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CAGGCCGGCCGCCAGGCCCCC	0.766													G|||	2	0.000399361	0.0	0.0	5008	,	,		8501	0.002		0.0	False		,,,				2504	0.0				Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(1075-1077)gCg>gTg		DMRT-like family A2							4.0	5.0	5.0					1																	50884890		1557	3478	5035	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884890G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1076C>T	1.37:g.50884890G>A	ENSP00000383909:p.Ala359Val					DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1468	-			359			Ala-rich.|Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.1076C>T	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669542	0.29693	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.32272	1.46;1.46	3.31	1.39	0.22231	UBA-like (1);	0.812390	0.10993	N	0.611379	T	0.10937	0.0267	N	0.02011	-0.69	0.27973	N	0.936345	B	0.06786	0.001	B	0.01281	0.0	T	0.27468	-1.0073	10	0.28530	T	0.3	-6.7493	6.4694	0.21999	0.3416:0.0:0.6584:0.0	.	359	Q96SC8	DMTA2_HUMAN	V	359	ENSP00000383909:A359V;ENSP00000399370:A359V	ENSP00000383909:A359V	A	-	2	0	DMRTA2	50657477	0.569000	0.26643	0.997000	0.53966	0.640000	0.38277	0.181000	0.16880	0.722000	0.32252	0.462000	0.41574	GCG		0.766	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		36	20	0	0	0	1	0	36	20				
BDKRB2	624	broad.mit.edu	37	14	96703485	96703485	+	Missense_Mutation	SNP	G	G	A	rs200131401		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:96703485G>A	ENST00000306005.3	+	2	237	c.41G>A	c.(40-42)cGt>cAt	p.R14H	BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	14			R -> C (in dbSNP:rs1046248). {ECO:0000269|PubMed:7779090, ECO:0000269|Ref.8}.		arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGTCTGTTCGTGAGGACTCC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.0					ENST00000306005.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(40-42)cGt>cAt		bradykinin receptor B2							196.0	157.0	170.0					14																	96703485		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96703485G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.41G>A	14.37:g.96703485G>A	ENSP00000307713:p.Arg14His					RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H	p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	2	237	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	14		R -> C (in dbSNP:rs1046248).				Missense_Mutation	SNP	ENST00000306005.3	37	c.41G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247970	0.39697	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.71934	-0.61;-0.61;1.71	3.71	-2.22	0.06952	.	2.399830	0.01945	N	0.042183	T	0.41050	0.1142	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.05351	T	0.99	.	0.5426	0.00648	0.3331:0.1884:0.2948:0.1837	.	14	P30411	BKRB2_HUMAN	H	14	ENSP00000450482:R14H;ENSP00000307713:R14H;ENSP00000450984:R14H	ENSP00000307713:R14H	R	+	2	0	RP11-404P21.8;BDKRB2	95773238	0.019000	0.18553	0.000000	0.03702	0.002000	0.02628	-0.001000	0.12947	-0.415000	0.07484	-1.880000	0.00545	CGT		0.527	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			7	210	0	0	0	1	0	7	210				
DGKK	139189	broad.mit.edu	37	X	50136189	50136189	+	RNA	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50136189G>T	ENST00000376025.2	-	0	1615							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACACTTGAGATGGGTTAAG	0.453																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							74.0	66.0	69.0					X																	50136189		1990	4141	6131			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136189G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136189G>T										Q5KSL6	DGKK_HUMAN			0	1615	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	84	1	0	0.00307968	1	0.00313467	7	84				
F5	2153	broad.mit.edu	37	1	169510577	169510577	+	Silent	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510577A>G	ENST00000367797.3	-	13	3952	c.3751T>C	c.(3751-3753)Tta>Cta	p.L1251L	F5_ENST00000367796.3_Silent_p.L1256L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1251	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGGTCTAAAGAAAGGGTT	0.522																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3766-3768)Tta>Cta		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						198.0	218.0	211.0					1																	169510577		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510577A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3751T>C	1.37:g.169510577A>G						F5_ENST00000367797.3_Silent_p.L1251L	p.L1256L			P12259	FA5_HUMAN			13	3967	-	all_hematologic(923;0.208)		1251			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3766T>C	CCDS1281.1																																																																																				0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		11	1718	0	0	0	1	0	11	1718				
ADRA1A	148	broad.mit.edu	37	8	26722090	26722090	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:26722090G>A	ENST00000519229.1	-	1	403	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	203					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTTGGGTAGCGCAGCGGGTAG	0.617																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(397-399)Cgc>Tgc		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						73.0	73.0	73.0					8																	26722090		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722090G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.397C>T	8.37:g.26722090G>A	ENSP00000430793:p.Arg133Cys					ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C	p.R133C			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1420	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	133					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	G	18.33	3.599366	0.66332	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.058843	0.64402	D	0.000001	T	0.67429	0.2892	M	0.89214	3.015	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.75020	0.975;0.975;0.973;0.975;0.95;0.985	T	0.73585	-0.3936	10	0.87932	D	0	.	11.6903	0.51512	0.0:0.0:0.7031:0.2969	.	133;133;133;133;133;133	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	C	133	ENSP00000369960:R133C;ENSP00000369961:R133C;ENSP00000369956:R133C;ENSP00000369955:R133C;ENSP00000430793:R133C;ENSP00000346557:R133C;ENSP00000276393:R133C;ENSP00000369947:R133C;ENSP00000369946:R133C;ENSP00000351725:R133C	ENSP00000276393:R133C	R	-	1	0	ADRA1A	26778007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.027000	0.64109	2.423000	0.82170	0.563000	0.77884	CGC		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		48	148	0	0	0	1	0	48	148				
TULP3	7289	broad.mit.edu	37	12	3042674	3042674	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:3042674G>A	ENST00000448120.2	+	7	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	263					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCGTGAAGGAGAAAGTTATGT	0.398																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(787-789)Gaa>Aaa		tubby like protein 3							130.0	118.0	122.0					12																	3042674		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3042674G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.787G>A	12.37:g.3042674G>A	ENSP00000410051:p.Glu263Lys					TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		7	838	+			263					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.787G>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082869	0.76642	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.85702	-2.02;-2.02	5.3	3.42	0.39159	Tubby, C-terminal (4);	0.254970	0.46442	D	0.000292	D	0.88775	0.6528	M	0.72479	2.2	0.50632	D	0.999881	P;P;D	0.59357	0.755;0.868;0.985	P;P;P	0.59288	0.752;0.854;0.855	D	0.87634	0.2518	10	0.72032	D	0.01	-0.7952	9.1654	0.37048	0.0765:0.0:0.7778:0.1457	.	120;263;263	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	K	263;120;263;263	ENSP00000410051:E263K;ENSP00000380321:E263K	ENSP00000228245:E263K	E	+	1	0	TULP3	2912935	1.000000	0.71417	0.878000	0.34440	0.654000	0.38779	7.869000	0.87170	0.573000	0.29400	0.561000	0.74099	GAA		0.398	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		51	112	0	0	0	1	0	51	112				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					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(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1474-1476)cGt>cAt		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His						p.R492H	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	2024	+			492					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			8	372	0	0	0	1	0	8	372				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	394	0	0	0	1	0	5	394				
LINC00957	255031	broad.mit.edu	37	7	44080541	44080541	+	lincRNA	SNP	G	G	A	rs3099751		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:44080541G>A	ENST00000441052.1	+	0	1226				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		CTGCCGCTGCGCCCCGCACCC	0.617																																						ENST00000441052.1																			0																																																			0							g.chr7:44080541G>A	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080541G>A														0	1226	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.617	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			15	74	0	0	0	1	0	15	74				
CDH8	1006	broad.mit.edu	37	16	62055298	62055298	+	Missense_Mutation	SNP	G	G	A	rs139797882		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:62055298G>A	ENST00000577390.1	-	2	964	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	4					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(10-12)Cgg>Tgg		cadherin 8, type 2							63.0	66.0	65.0					16																	62055298		2201	4295	6496	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055298G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.10C>T	16.37:g.62055298G>A	ENSP00000462701:p.Arg4Trp					CDH8_ENST00000584337.1_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000299345.6_Missense_Mutation_p.R4W	p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	964	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	4					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.10C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920100	0.73098	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.17	5.2	0.72013	.	0.068663	0.64402	D	0.000020	T	0.69360	0.3102	L	0.47716	1.5	0.39308	D	0.965029	D	0.89917	1.0	D	0.77557	0.99	T	0.73792	-0.3871	10	0.87932	D	0	.	13.5257	0.61593	0.0:0.0:0.5605:0.4395	.	4	P55286	CADH8_HUMAN	W	4	ENSP00000299345:R4W	ENSP00000299345:R4W	R	-	1	2	CDH8	60612799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.564000	0.49628	0.655000	0.94253	CGG		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		35	286	0	0	0	1	0	35	286				
PRG4	10216	broad.mit.edu	37	1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTCCCAAGGAGCC	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1555-1557)Ccc>Acc		proteoglycan 4							128.0	118.0	121.0					1																	186276406		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276406C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1555C>A	1.37:g.186276406C>A	ENSP00000399679:p.Pro519Thr					PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	p.P519T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1600	+			519			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1555C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	2.625	-0.287646	0.05605	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.51;3.47;3.54	2.92	0.7	0.18099	.	.	.	.	.	T	0.05502	0.0145	L	0.46885	1.475	0.09310	N	0.999997	B;B;B;B	0.32573	0.376;0.376;0.259;0.376	B;B;B;B	0.25140	0.058;0.058;0.026;0.058	T	0.37753	-0.9692	8	.	.	.	.	7.2645	0.26222	0.3378:0.5079:0.1544:0.0	.	385;426;519;478	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	476;385;478;426;519	ENSP00000356456:P476T;ENSP00000356453:P478T;ENSP00000356455:P426T;ENSP00000399679:P519T	.	P	+	1	0	PRG4	184543029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.218000	0.02976	-0.122000	0.11766	0.186000	0.17326	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	745	1	0	5.50884e-06	1	5.76154e-06	8	745				
SUSD2	56241	broad.mit.edu	37	22	24579094	24579094	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579094C>G	ENST00000358321.3	+	2	407	c.146C>G	c.(145-147)tCt>tGt	p.S49C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	49	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCGACGTGCTCTGGCCTTGGC	0.632																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(145-147)tCt>tGt		sushi domain containing 2							135.0	147.0	143.0					22																	24579094		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579094C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.146C>G	22.37:g.24579094C>G	ENSP00000351075:p.Ser49Cys						p.S49C	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	407	+			49			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.146C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.214	0.596096	0.13875	.	.	ENSG00000099994	ENST00000358321	T	0.44482	0.92	3.76	1.58	0.23477	Somatomedin B domain (4);	1.140860	0.06462	N	0.729556	T	0.38931	0.1059	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	P	0.44732	0.459	T	0.30679	-0.9970	10	0.51188	T	0.08	-8.1814	3.3614	0.07188	0.1932:0.5932:0.0:0.2136	.	49	Q9UGT4	SUSD2_HUMAN	C	49	ENSP00000351075:S49C	ENSP00000351075:S49C	S	+	2	0	SUSD2	22909094	0.000000	0.05858	0.353000	0.25747	0.062000	0.15995	-3.602000	0.00418	0.371000	0.24564	0.449000	0.29647	TCT		0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		57	542	0	0	0	1	0	57	542				
PTPRR	5801	broad.mit.edu	37	12	71029558	71029558	+	IGR	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:71029558C>T	ENST00000283228.2	-	0	3529				PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D|PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.G115D	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACTCTGGAGCCTTGTTTCTG	0.493																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(343-345)gGc>gAc		protein tyrosine phosphatase, receptor type, B							56.0	53.0	54.0					12																	71029558		1894	4118	6012	SO:0001628	intergenic_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029558C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029558C>T						PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D	p.G115D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	388	-	Renal(347;0.236)		0			Fibronectin type-III 2.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.344G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636488	0.29068	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30182	1.54;1.54;1.54	6.04	4.22	0.49857	.	.	.	.	.	T	0.31796	0.0808	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.52463	0.953;0.661;0.947;0.947	P;P;P;P	0.51657	0.661;0.508;0.676;0.676	T	0.04796	-1.0926	9	0.56958	D	0.05	.	12.2951	0.54842	0.0:0.8621:0.0:0.1379	.	115;114;115;115	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	D	115;115;115;114	ENSP00000334928:G115D;ENSP00000448058:G115D;ENSP00000448349:G114D	ENSP00000334928:G115D	G	-	2	0	PTPRB	69315825	1.000000	0.71417	0.552000	0.28243	0.080000	0.17528	3.104000	0.50306	0.876000	0.35872	-0.244000	0.11960	GGC		0.493	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		39	78	0	0	0	1	0	39	78				
HACE1	57531	broad.mit.edu	37	6	105198307	105198307	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:105198307C>G	ENST00000262903.4	-	20	2528	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGAATGGCTCTTGTCATTCG	0.368																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2251-2253)aGa>aCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							112.0	104.0	107.0					6																	105198307		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198307C>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2252G>C	6.37:g.105198307C>G	ENSP00000262903:p.Arg751Thr					HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR	p.R751T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2528	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	751			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2252G>C	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872626	0.72180	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.56776	0.44;0.44	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.25286	0.73	0.34010	D	0.651392	B;P;D;D	0.59357	0.347;0.901;0.985;0.981	B;P;D;D	0.69824	0.387;0.453;0.966;0.943	T	0.36456	-0.9747	10	0.17369	T	0.5	.	18.6385	0.91386	0.0:1.0:0.0:0.0	.	536;240;751;404	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	T	751;536	ENSP00000262903:R751T;ENSP00000358121:R536T	ENSP00000262903:R751T	R	-	2	0	HACE1	105305000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.473000	0.83533	0.563000	0.77884	AGA		0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		12	159	0	0	0	1	0	12	159				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					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)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	159	0	0	0	1	0	4	159				
UGT1A10	54575	broad.mit.edu	37	2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGTGGCTTTGCCGAGGCAGGG	0.592																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(67-69)gCc>gTc									102.0	95.0	97.0					2																	234545236		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545236C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.68C>T	2.37:g.234545236C>T	ENSP00000343838:p.Ala23Val					UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A8_ENST00000373450.4_Intron	p.A23V	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	137	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.68C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194005	0.22037	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.36	3.83	1.94	0.25998	.	.	.	.	.	T	0.40619	0.1124	L	0.31845	0.965	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.23852	0.02;0.049	T	0.28964	-1.0027	9	0.13470	T	0.59	.	5.5238	0.16947	0.0:0.6325:0.1827:0.1848	.	23;23	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	V	23	ENSP00000343838:A23V;ENSP00000362544:A23V	ENSP00000343838:A23V	A	+	2	0	UGT1A10	234209975	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.183000	0.16919	0.376000	0.24707	0.537000	0.68136	GCC		0.592	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		5	389	0	0	0	1	0	5	389				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	281	0	0	0	1	0	6	281				
KRTAP5-4	387267	broad.mit.edu	37	11	1642992	1642992	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:1642992C>T	ENST00000399682.1	-	1	376	c.332G>A	c.(331-333)tGt>tAt	p.C111Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGGAGCCACAGCCCCCCTT	0.672																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(331-333)tGt>tAt		keratin associated protein 5-4							8.0	17.0	14.0					11																	1642992		650	1515	2165	SO:0001583	missense	387267					keratin filament		g.chr11:1642992C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.332G>A	11.37:g.1642992C>T	ENSP00000382590:p.Cys111Tyr						p.C111Y	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	376	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	111			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.332G>A		.	.	.	.	.	.	.	.	.	.	C	7.750	0.703101	0.15172	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00882	5.58	3.38	3.38	0.38709	.	.	.	.	.	T	0.03390	0.0098	M	0.91972	3.26	0.29034	N	0.885525	B	0.29862	0.259	B	0.36244	0.22	T	0.00675	-1.1615	9	0.49607	T	0.09	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	171	Q6L8H1	KRA54_HUMAN	Y	111	ENSP00000382590:C111Y	ENSP00000331603:C111Y	C	-	2	0	KRTAP5-4	1599568	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.124000	0.50461	1.573000	0.49748	0.579000	0.79373	TGT		0.672	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	394	0	0	0	1	0	7	394				
BIRC2	329	broad.mit.edu	37	11	102221640	102221640	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:102221640G>C	ENST00000227758.2	+	3	2360	c.961G>C	c.(961-963)Gat>Cat	p.D321H	BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H|BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	321					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATCTGGAGATGATCCATGGGT	0.383																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(961-963)Gat>Cat		baculoviral IAP repeat containing 2							330.0	311.0	317.0					11																	102221640		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221640G>C	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.961G>C	11.37:g.102221640G>C	ENSP00000227758:p.Asp321His					BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H	p.D321H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	2360	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	321					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.961G>C	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175075	0.78564	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.05786	3.39;3.39;3.39	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52238	-0.8602	10	0.87932	D	0	-17.6801	20.2019	0.98263	0.0:0.0:1.0:0.0	.	321	Q13490	BIRC2_HUMAN	H	272;321;321;300	ENSP00000431723:D272H;ENSP00000227758:D321H;ENSP00000434979:D300H	ENSP00000227758:D321H	D	+	1	0	BIRC2	101726850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.428000	0.73383	2.776000	0.95493	0.655000	0.94253	GAT		0.383	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		11	682	0	0	0	1	0	11	682				
ZZZ3	26009	broad.mit.edu	37	1	78031331	78031331	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:78031331G>C	ENST00000370801.3	-	15	3181	c.2706C>G	c.(2704-2706)aaC>aaG	p.N902K	ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	902					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CATGTCATCTGTTTGCTGGAA	0.388																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2704-2706)aaC>aaG		zinc finger, ZZ-type containing 3							179.0	151.0	161.0					1																	78031331		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031331G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2706C>G	1.37:g.78031331G>C	ENSP00000359837:p.Asn902Lys					ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR	p.N902K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			15	3181	-			902					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2706C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607382	0.46527	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.65067	-0.6258	9	0.87932	D	0	.	9.2332	0.37450	0.2136:0.0:0.7864:0.0	.	408;902;901	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	902;408	.	ENSP00000359834:N408K	N	-	3	2	ZZZ3	77803919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.295000	0.51794	1.500000	0.48636	-0.218000	0.12543	AAC		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		62	133	0	0	0	1	0	62	133				
FIP1L1	81608	broad.mit.edu	37	4	54248462	54248462	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:54248462G>C	ENST00000337488.6	+	4	382	c.188G>C	c.(187-189)gGa>gCa	p.G63A	FIP1L1_ENST00000507166.1_Missense_Mutation_p.G63A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	63	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTCCATCTGGAATTGAAGAT	0.333			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(187-189)gGa>gCa		factor interacting with PAPOLA and CPSF1							155.0	144.0	148.0					4																	54248462		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54248462G>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.188G>C	4.37:g.54248462G>C	ENSP00000336752:p.Gly63Ala					FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000337488.6_Missense_Mutation_p.G63A|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A	p.G63A			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		4	188	+			63			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.188G>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844491	0.71488	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.76578	-1.03	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.82430	0.5035	L	0.36672	1.1	0.54753	D	0.999984	P;D;B;D	0.76494	0.955;0.999;0.217;0.958	P;D;B;P	0.80764	0.756;0.994;0.189;0.671	T	0.78175	-0.2306	10	0.20519	T	0.43	-21.7326	17.912	0.88937	0.0:0.0:1.0:0.0	.	48;48;63;48	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	A	63;48;48;48;63	ENSP00000423325:G63A	ENSP00000302993:G48A	G	+	2	0	FIP1L1	53943219	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.540000	0.45727	2.556000	0.86216	0.655000	0.94253	GGA		0.333	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		55	82	0	0	0	1	0	55	82				
PRKCDBP	112464	broad.mit.edu	37	11	6340448	6340448	+	Missense_Mutation	SNP	G	G	C	rs144277485		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6340448G>C	ENST00000303927.3	-	2	901	c.731C>G	c.(730-732)cCc>cGc	p.P244R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	244					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTCTCCCGGGATCTTCCTC	0.667																																						ENST00000303927.3																			0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(730-732)cCc>cGc		protein kinase C, delta binding protein		G	ARG/PRO	1,4401	2.1+/-5.4	0,1,2200	106.0	118.0	114.0		731	3.8	1.0	11	dbSNP_134	114	0,8592		0,0,4296	no	missense	PRKCDBP	NM_145040.2	103	0,1,6496	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	244/262	6340448	1,12993	2201	4296	6497	SO:0001583	missense	112464							g.chr11:6340448G>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.731C>G	11.37:g.6340448G>C	ENSP00000307292:p.Pro244Arg					PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	p.P244R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	901	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	244						Missense_Mutation	SNP	ENST00000303927.3	37	c.731C>G	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335765	0.60853	2.27E-4	0.0	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.52754	0.65;1.51	4.8	3.82	0.43975	.	0.451085	0.21593	N	0.072064	T	0.43765	0.1262	L	0.27053	0.805	0.31928	N	0.612567	P	0.44429	0.835	P	0.50825	0.651	T	0.54186	-0.8331	10	0.72032	D	0.01	-10.4875	9.4925	0.38969	0.0:0.0:0.7895:0.2105	.	244	Q969G5	PRDBP_HUMAN	R	244;276	ENSP00000307292:P244R;ENSP00000432047:P276R	ENSP00000307292:P244R	P	-	2	0	PRKCDBP	6297024	0.780000	0.28664	1.000000	0.80357	0.728000	0.41692	2.227000	0.42972	2.226000	0.72624	0.561000	0.74099	CCC		0.667	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		17	600	0	0	0	1	0	17	600				
MYLK	4638	broad.mit.edu	37	3	123418920	123418920	+	Missense_Mutation	SNP	G	G	A	rs202025561		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:123418920G>A	ENST00000475616.1	-	15	3394	c.3395C>T	c.(3394-3396)aCg>aTg	p.T1132M	MYLK_ENST00000360772.3_Missense_Mutation_p.T1132M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M			Q15746	MYLK_HUMAN	myosin light chain kinase	1132	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCGTTCAGCGTCCAGATGAT	0.567																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3394-3396)aCg>aTg		myosin light chain kinase							103.0	98.0	100.0					3																	123418920		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123418920G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3395C>T	3.37:g.123418920G>A	ENSP00000418335:p.Thr1132Met					MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1132M	p.T1132M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3773	-		Lung NSC(201;0.0496)	1132			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3395C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664962	0.29604	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.32639	N	0.521	B;B;B;B;B;B	0.33512	0.237;0.157;0.379;0.362;0.415;0.279	B;B;B;B;B;B	0.34138	0.11;0.062;0.105;0.11;0.139;0.176	T	0.38308	-0.9667	9	0.33141	T	0.24	.	12.9494	0.58391	0.1201:0.0:0.8799:0.0	.	1132;210;1063;1132;1063;1132	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1132;1132;1132;1063;1132	ENSP00000354004:T1132M;ENSP00000353452:T1132M;ENSP00000352088:T1132M;ENSP00000320622:T1063M;ENSP00000418335:T1132M	ENSP00000320622:T1063M	T	-	2	0	MYLK	124901610	1.000000	0.71417	0.648000	0.29521	0.936000	0.57629	3.938000	0.56583	0.800000	0.34041	0.555000	0.69702	ACG		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		146	293	0	0	0	1	0	146	293				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		6	67	0	0	0	1	0	6	67				
ADAMTS3	9508	broad.mit.edu	37	4	73414444	73414444	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73414444C>G	ENST00000286657.4	-	3	291	c.255G>C	c.(253-255)acG>acC	p.T85T	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	85					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCAAATGCCGTGATGTTAA	0.493																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(253-255)acG>acC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							107.0	101.0	103.0					4																	73414444		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414444C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.255G>C	4.37:g.73414444C>G						ADAMTS3_ENST00000505193.1_5'UTR	p.T85T	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	291	-			85					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.255G>C	CCDS3553.1																																																																																				0.493	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			69	151	0	0	0	1	0	69	151				
ITSN2	50618	broad.mit.edu	37	2	24521586	24521586	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:24521586A>G	ENST00000355123.4	-	13	1885	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T	ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	481					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCTGACAATTTCTTCTTG	0.398																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1441-1443)aTt>aCt		intersectin 2							159.0	156.0	157.0					2																	24521586		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521586A>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1442T>C	2.37:g.24521586A>G	ENSP00000347244:p.Ile481Thr					ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			13	1885	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		481					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1442T>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339931	0.60963	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.79653	0.08;0.13;0.08;0.56;-1.29	5.24	5.24	0.73138	.	0.000000	0.37577	U	0.002034	D	0.86531	0.5955	L	0.52011	1.625	0.52099	D	0.999941	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.85992	0.1489	10	0.40728	T	0.16	.	15.4385	0.75165	1.0:0.0:0.0:0.0	.	481;481;481;481	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	T	481;481;481;505;481;506	ENSP00000354561:I481T;ENSP00000347244:I481T;ENSP00000370250:I481T;ENSP00000384499:I481T;ENSP00000391224:I506T	ENSP00000347244:I481T	I	-	2	0	ITSN2	24375090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.614000	0.90917	2.123000	0.65237	0.397000	0.26171	ATT		0.398	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		119	263	0	0	0	1	0	119	263				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		9	241	0	0	0	1	0	9	241				
RPTN	126638	broad.mit.edu	37	1	152128294	152128294	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152128294G>A	ENST00000316073.3	-	3	1345	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	427	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCGTAGTGAGAAC	0.522																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1279-1281)taC>taT		repetin							797.0	694.0	725.0					1																	152128294		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128294G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1281C>T	1.37:g.152128294G>A							p.Y427Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1345	-			427			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1281C>T	CCDS41397.1																																																																																				0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	3634	0	0	0	1	0	12	3634				
PLK2	10769	broad.mit.edu	37	5	57750426	57750426	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:57750426A>C	ENST00000274289.3	-	14	2342	c.2042T>G	c.(2041-2043)tTa>tGa	p.L681*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	681					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACATCTTTGTAAGAGCATGTT	0.408																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(2041-2043)tTa>tGa		polo-like kinase 2							148.0	141.0	143.0					5																	57750426		2203	4300	6503	SO:0001587	stop_gained	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57750426A>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.2042T>G	5.37:g.57750426A>C	ENSP00000274289:p.Leu681*					PLK2_ENST00000502671.1_Intron	p.L681*	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	14	2342	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	681					O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	c.2042T>G	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	40	8.531226	0.98852	.	.	ENSG00000145632	ENST00000274289	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.6175	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	X	681	.	ENSP00000274289:L681X	L	-	2	0	PLK2	57786183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.962000	0.76048	2.274000	0.75844	0.533000	0.62120	TTA		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		9	256	0	0	0	1	0	9	256				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	138	0	0	0	1	0	4	138				
ADAMTS3	9508	broad.mit.edu	37	4	73205337	73205337	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73205337C>G	ENST00000286657.4	-	5	771	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	245					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGGCGTCTCATTGTTTCAT	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(733-735)atG>atC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							243.0	234.0	237.0					4																	73205337		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205337C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.735G>C	4.37:g.73205337C>G	ENSP00000286657:p.Met245Ile						p.M245I	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	771	-			245					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.735G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179799	0.06380	.	.	ENSG00000156140	ENST00000286657	T	0.60171	0.21	5.31	1.65	0.23941	.	1.075530	0.07192	N	0.855931	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.39692	T	0.17	.	2.8231	0.05477	0.2577:0.4819:0.1247:0.1357	.	245	O15072	ATS3_HUMAN	I	245	ENSP00000286657:M245I	ENSP00000286657:M245I	M	-	3	0	ADAMTS3	73424201	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	-0.034000	0.12225	0.093000	0.17368	-0.300000	0.09419	ATG		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			25	688	0	0	0	1	0	25	688				
PCDHGA10	56106	broad.mit.edu	37	5	140793564	140793564	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140793564C>T	ENST00000398610.2	+	1	822	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGGACGAAGGTGCCA	0.458																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(820-822)gaC>gaT									32.0	35.0	34.0					5																	140793564		1980	4176	6156	SO:0001819	synonymous_variant	0							g.chr5:140793564C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.822C>T	5.37:g.140793564C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	p.D274D	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	822	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.822C>T	CCDS47292.1																																																																																				0.458	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		8	111	0	0	0	1	0	8	111				
STEAP3	55240	broad.mit.edu	37	2	120005698	120005698	+	Silent	SNP	C	C	T	rs145832236		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:120005698C>T	ENST00000354888.5	+	4	1440	c.936C>T	c.(934-936)tgC>tgT	p.C312C	STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	312	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTTCTTCTGCGCCGCCCTGC	0.677																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(934-936)tgC>tgT		STEAP family member 3, metalloreductase		C	,,	0,4394		0,0,2197	30.0	27.0	28.0		936,936,966	2.6	1.0	2	dbSNP_134	28	1,8577		0,1,4288	no	coding-synonymous,coding-synonymous,coding-synonymous	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	,,	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	,,	312/489,312/489,322/499	120005698	1,12971	2197	4289	6486	SO:0001819	synonymous_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005698C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.936C>T	2.37:g.120005698C>T						STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C	p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1440	+			312			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.936C>T	CCDS2125.1																																																																																				0.677	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		69	53	0	0	0	1	0	69	53				
DCST1	149095	broad.mit.edu	37	1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G	rs202162660	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:155018875C>G	ENST00000295542.1	+	13	1504	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V|DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	470						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0					ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1408-1410)Ctg>Gtg		DC-STAMP domain containing 1							172.0	125.0	141.0					1																	155018875		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155018875C>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1408C>G	1.37:g.155018875C>G	ENSP00000295542:p.Leu470Val					DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V	p.L470V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		13	1504	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		470					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1408C>G	CCDS1083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.900	0.956209	0.18507	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.01	2.1	0.27182	Dendritic cell-specific transmembrane protein-like (1);	0.405411	0.23405	N	0.048536	T	0.04003	0.0112	N	0.02539	-0.55	0.29976	N	0.818112	P;P;P	0.45126	0.851;0.817;0.851	B;P;B	0.47705	0.355;0.555;0.355	T	0.22487	-1.0215	10	0.02654	T	1	-16.915	7.2083	0.25919	0.0:0.7176:0.0:0.2824	.	445;495;470	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	470;470;445;470	ENSP00000295542:L470V;ENSP00000376271:L470V;ENSP00000387369:L445V;ENSP00000357404:L470V	ENSP00000295542:L470V	L	+	1	2	DCST1	153285499	0.996000	0.38824	0.986000	0.45419	0.571000	0.35966	0.859000	0.27858	0.714000	0.32081	-0.137000	0.14449	CTG		0.627	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		6	579	0	0	0	1	0	6	579				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	280	0	0	0	1	0	8	280				
FH	2271	broad.mit.edu	37	1	241671912	241671912	+	Silent	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:241671912A>G	ENST00000366560.3	-	5	767	c.729T>C	c.(727-729)acT>acC	p.T243T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	243					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTGCCCAAGAGTAAGTGGAA	0.398			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(727-729)acT>acC		fumarate hydratase							123.0	116.0	118.0					1																	241671912		2203	4300	6503	SO:0001819	synonymous_variant	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241671912A>G	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.729T>C	1.37:g.241671912A>G							p.T243T	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	5	767	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	243					B1ANK7	Silent	SNP	ENST00000366560.3	37	c.729T>C	CCDS1617.1																																																																																				0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		130	127	0	0	0	1	0	130	127				
UPK1A	11045	broad.mit.edu	37	19	36168781	36168781	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:36168781C>G	ENST00000222275.2	+	6	716	c.716C>G	c.(715-717)gCc>gGc	p.A239G	UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	239					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTGGGTTTGCCATCCTGATG	0.657																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(715-717)gCc>gGc		uroplakin 1A							77.0	63.0	67.0					19																	36168781		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36168781C>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.716C>G	19.37:g.36168781C>G	ENSP00000222275:p.Ala239Gly					UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	p.A239G	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	716	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		239					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.716C>G	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.625613|3.625613	0.66901|0.66901	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.77750|0.07216	-1.12|3.21	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|.	.|.	.|.	.|.	T|T	0.09423|0.09423	0.0232|0.0232	L|L	0.48642|0.48642	1.525|1.525	0.39783|0.39783	D|D	0.97232|0.97232	P|P	0.35328|0.37330	0.495|0.59	B|B	0.39339|0.30572	0.297|0.117	T|T	0.04607|0.04607	-1.0939|-1.0939	9|9	0.06236|0.87932	T|D	0.91|0	-5.748|-5.748	15.1232|15.1232	0.72460|0.72460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	239|272	O00322|O00322-2	UPK1A_HUMAN|.	G|A	239|272	ENSP00000222275:A239G|ENSP00000368298:P272A	ENSP00000222275:A239G|ENSP00000368298:P272A	A|P	+|+	2|1	0|0	UPK1A|UPK1A	40860621|40860621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.013000|5.013000	0.64023|0.64023	2.643000|2.643000	0.89663|0.89663	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.657	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			5	103	0	0	0	1	0	5	103				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	335	0	0	0	1	0	6	335				
TSSK1B	83942	broad.mit.edu	37	5	112769663	112769663	+	Missense_Mutation	SNP	G	G	A	rs369630791		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:112769663G>A	ENST00000390666.3	-	1	1065	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	292					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCAGTTCCCCGGGAACTCTCC	0.637																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(874-876)Cgg>Tgg		testis-specific serine kinase 1B		G	,TRP/ARG	1,4339		0,1,2169	35.0	38.0	37.0		,874	1.2	0.0	5		37	0,8574		0,0,4287	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,101	0,1,6456	AA,AG,GG		0.0,0.023,0.0077	,possibly-damaging	,292/368	112769663	1,12913	2170	4287	6457	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769663G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.874C>T	5.37:g.112769663G>A	ENSP00000375081:p.Arg292Trp					CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	p.R292W	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1065	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	292					B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.874C>T	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263874	0.23136	2.3E-4	0.0	ENSG00000212122	ENST00000390666	T	0.69806	-0.43	1.24	1.24	0.21308	Protein kinase-like domain (1);	0.657886	0.11189	U	0.590072	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.26883	-1.0090	10	0.41790	T	0.15	.	5.7504	0.18144	0.0:0.0:1.0:0.0	.	292	Q9BXA7	TSSK1_HUMAN	W	292	ENSP00000375081:R292W	ENSP00000375081:R292W	R	-	1	2	TSSK1B	112797562	0.980000	0.34600	0.001000	0.08648	0.004000	0.04260	4.334000	0.59291	0.653000	0.30826	0.462000	0.41574	CGG		0.637	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		47	80	0	0	0	1	0	47	80				
MAP3K15	389840	broad.mit.edu	37	X	19418752	19418752	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:19418752G>T	ENST00000338883.4	-	14	1873	c.1874C>A	c.(1873-1875)aCc>aAc	p.T625N	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	625							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)					TGCTGTATTGGTTATCATCTC	0.433																																						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.(1873-1875)aCc>aAc		mitogen-activated protein kinase kinase kinase 15							313.0	268.0	283.0					X																	19418752		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19418752G>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.1874C>A	X.37:g.19418752G>T	ENSP00000345629:p.Thr625Asn					MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	p.T625N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			14	1873	-	Hepatocellular(33;0.183)		625					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1874C>A		.	.	.	.	.	.	.	.	.	.	G	11.64	1.698917	0.30142	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72615	-0.64;-0.67;-0.63	5.28	2.26	0.28386	.	0.382440	0.28371	N	0.015585	T	0.61800	0.2376	L	0.48642	1.525	0.09310	N	1	B;B	0.23650	0.089;0.024	B;B	0.28709	0.093;0.008	T	0.51616	-0.8683	10	0.33141	T	0.24	.	10.3167	0.43740	0.0:0.2752:0.5848:0.14	.	100;625	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	N	625;60;457	ENSP00000345629:T625N;ENSP00000352093:T60N;ENSP00000428356:T457N	ENSP00000345629:T625N	T	-	2	0	MAP3K15	19328673	0.896000	0.30565	0.038000	0.18304	0.704000	0.40688	2.177000	0.42509	0.397000	0.25310	0.597000	0.82753	ACC		0.433	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		7	1000	1	0	1.12685e-05	1	1.17316e-05	7	1000				
TMPRSS6	164656	broad.mit.edu	37	22	37466587	37466587	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:37466587C>A	ENST00000346753.3	-	15	1921	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	602	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCCCCCCCACAGATGTGTCG	0.662																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1777-1779)tGt>tTt		transmembrane protease, serine 6							53.0	56.0	55.0					22																	37466587		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466587C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1805G>T	22.37:g.37466587C>A	ENSP00000334962:p.Cys602Phe					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.C602F	p.C593F			Q8IU80	TMPS6_HUMAN			15	1918	-			602			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1778G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928706	0.92389	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97650	1.0154	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	593;602	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	F	593;602;593;593	ENSP00000371211:C593F;ENSP00000334962:C602F;ENSP00000385453:C593F;ENSP00000384964:C593F	ENSP00000334962:C602F	C	-	2	0	TMPRSS6	35796533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.741000	0.84997	2.540000	0.85666	0.591000	0.81541	TGT		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		16	343	1	0	6.49762e-13	1	6.98801e-13	16	343				
KCNG3	170850	broad.mit.edu	37	2	42719978	42719978	+	Splice_Site	SNP	C	C	G	rs375643888		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:42719978C>G	ENST00000306078.1	-	1	1259	c.664G>C	c.(664-666)Ggg>Cgg	p.G222R	KCNG3_ENST00000394973.4_Intron|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	222					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GCGTCCTACCCGGAGGGCTCC	0.711																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.e1+1		potassium voltage-gated channel, subfamily G, member 3							19.0	15.0	16.0					2																	42719978		2182	4272	6454	SO:0001630	splice_region_variant	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42719978C>G	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.665+1G>C	2.37:g.42719978C>G						KCNG3_ENST00000394973.4_Intron	p.G222_splice	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			1	1259	-			222					Q53SC1	Splice_Site	SNP	ENST00000306078.1	37	c.665_splice	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656292	0.47467	.	.	ENSG00000171126	ENST00000306078	D	0.97328	-4.34	4.85	3.97	0.46021	.	0.983145	0.08331	N	0.962294	D	0.91529	0.7325	N	0.08118	0	0.80722	D	1	P	0.45768	0.866	B	0.35278	0.199	D	0.86409	0.1747	10	0.54805	T	0.06	.	13.3731	0.60723	0.0:0.9238:0.0:0.0762	.	222	Q8TAE7	KCNG3_HUMAN	R	222	ENSP00000304127:G222R	ENSP00000304127:G222R	G	-	1	0	KCNG3	42573482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.822000	0.69265	1.253000	0.44018	0.563000	0.77884	GGG		0.711	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344	Missense_Mutation	26	49	0	0	0	1	0	26	49				
PLIN4	729359	broad.mit.edu	37	19	4501203	4501203	+	IGR	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:4501203A>G	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_Splice_Site_p.D602G|HDGFRP2_ENST00000301284.4_Splice_Site_p.D602G	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCACCCAGATCTCTCAGCC	0.657																																						ENST00000301284.4																			0											c.e15-1									42.0	50.0	47.0					19																	4501203		2033	4175	6208	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501203A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501203A>G						HDGFRP2_ENST00000586684.1_Splice_Site_p.D602_splice	p.D602_splice	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			15	1869	+			597					A6NEI2	Splice_Site	SNP	ENST00000301286.3	37	c.1804_splice	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	A	7.470	0.646384	0.14451	.	.	ENSG00000167674	ENST00000301284	T	0.47177	0.85	3.96	2.94	0.34122	.	0.486110	0.18610	N	0.136185	T	0.31136	0.0787	L	0.29908	0.895	0.32476	N	0.542179	B;B	0.15930	0.015;0.003	B;B	0.14578	0.011;0.002	T	0.29640	-1.0005	9	.	.	.	.	7.3182	0.26513	0.8911:0.0:0.1089:0.0	.	597;602	Q7Z4V5-2;C9JEE1	.;.	G	602	ENSP00000301284:D602G	.	D	+	2	0	AC011498.1	4452203	0.914000	0.31030	0.036000	0.18154	0.053000	0.15095	2.902000	0.48703	0.585000	0.29608	0.379000	0.24179	GAT		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		55	121	0	0	0	1	0	55	121				
KIAA1210	57481	broad.mit.edu	37	X	118221500	118221500	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:118221500C>A	ENST00000402510.2	-	11	3692	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1231										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACTTCAGGCTTTGATAAAG	0.448																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3691-3693)aaG>aaT		KIAA1210							39.0	36.0	37.0					X																	118221500		1879	4107	5986	SO:0001583	missense	57481							g.chrX:118221500C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3693G>T	X.37:g.118221500C>A	ENSP00000384670:p.Lys1231Asn						p.K1231N	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	3692	-			1231					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3693G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.176|8.176	0.792717|0.792717	0.16327|0.16327	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.38|4.38	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.37573	.|0.6	.|B	.|0.36289	.|0.221	T|T	0.22977|0.22977	-1.0201|-1.0201	5|9	.|0.40728	.|T	.|0.16	.|.	0.6478|0.6478	0.00821|0.00821	0.292:0.2336:0.2834:0.191|0.292:0.2336:0.2834:0.191	.|.	.|1231	.|Q9ULL0	.|K1210_HUMAN	S|N	638|1231	.|ENSP00000384670:K1231N	.|ENSP00000384670:K1231N	A|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105528|118105528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.729000|-0.729000	0.04920|0.04920	-0.638000|-0.638000	0.05509|0.05509	-0.192000|-0.192000	0.12808|0.12808	GCC|AAG		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		23	97	1	0	6.12954e-19	1	6.68677e-19	23	97				
DCST2	127579	broad.mit.edu	37	1	154998864	154998864	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154998864G>T	ENST00000368424.3	-	10	1583	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	509						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGAAGCATAGGCCATACATG	0.637																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1525-1527)Cta>Ata		DC-STAMP domain containing 2							55.0	54.0	54.0					1																	154998864		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154998864G>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1525C>A	1.37:g.154998864G>T	ENSP00000357409:p.Leu509Ile					DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1583	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		509					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1525C>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477203	0.44044	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.34667	1.35;1.35	4.75	4.75	0.60458	Dendritic cell-specific transmembrane protein-like (1);	0.218950	0.30392	N	0.009722	T	0.25082	0.0609	M	0.78637	2.42	0.28184	N	0.92805	P	0.47604	0.898	B	0.42138	0.377	T	0.12993	-1.0526	10	0.36615	T	0.2	-8.1492	10.3498	0.43927	0.0:0.0:0.8042:0.1958	.	509	Q5T1A1	DCST2_HUMAN	I	509	ENSP00000357409:L509I;ENSP00000295536:L509I	ENSP00000295536:L509I	L	-	1	2	DCST2	153265488	0.483000	0.25956	0.991000	0.47740	0.961000	0.63080	0.167000	0.16602	2.466000	0.83321	0.655000	0.94253	CTA		0.637	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		98	344	1	0	1.2711e-46	1	1.44906e-46	98	344				
PCDHB15	56121	broad.mit.edu	37	5	140626038	140626038	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140626038T>A	ENST00000231173.3	+	1	892	c.892T>A	c.(892-894)Tca>Aca	p.S298T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGCCTTTCAGGAGAAAT	0.403																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(892-894)Tca>Aca									64.0	68.0	67.0					5																	140626038		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626038T>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.892T>A	5.37:g.140626038T>A	ENSP00000231173:p.Ser298Thr						p.S298T	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	892	+			298			Cadherin 3.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.892T>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.283625	0.00251	.	.	ENSG00000113248	ENST00000231173	T	0.44482	0.92	5.07	2.17	0.27698	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.02357	-0.585	0.09310	N	1	B	0.12630	0.006	B	0.21546	0.035	T	0.36187	-0.9758	9	0.02654	T	1	.	4.5546	0.12130	0.4747:0.0948:0.0:0.4306	.	298	Q9Y5E8	PCDBF_HUMAN	T	298	ENSP00000231173:S298T	ENSP00000231173:S298T	S	+	1	0	PCDHB15	140606222	0.004000	0.15560	0.091000	0.20842	0.376000	0.30014	1.902000	0.39848	0.853000	0.35312	-0.669000	0.03829	TCA		0.403	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		10	427	0	0	0	1	0	10	427				
C1QB	713	broad.mit.edu	37	1	22986137	22986137	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:22986137G>A	ENST00000314933.6	+	2	319		c.e2+1		C1QB_ENST00000509305.1_Splice_Site	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGAAAGGTACCATGGGA	0.577																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.e2+1		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						24.0	26.0	26.0					1																	22986137		2203	4299	6502	SO:0001630	splice_region_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986137G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.187+1G>A	1.37:g.22986137G>A						C1QB_ENST00000314933.6_Splice_Site				P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	527	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q5T959|Q96H17	Splice_Site	SNP	ENST00000314933.6	37		CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336484	0.60963	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6031	0.62031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1QB	22858724	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.184000	0.72008	2.350000	0.79820	0.549000	0.68633	.		0.577	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491	Intron	20	18	0	0	0	1	0	20	18				
SHROOM4	57477	broad.mit.edu	37	X	50378166	50378166	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50378166C>G	ENST00000289292.7	-	4	1190	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V303L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	303					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCAAGGGGACCACAGGCTCA	0.587																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(907-909)Gtc>Ctc		shroom family member 4							32.0	21.0	25.0					X																	50378166		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378166C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.907G>C	X.37:g.50378166C>G	ENSP00000289292:p.Val303Leu					SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.V303L	p.V303L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	932	-	Ovarian(276;0.236)		303					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.907G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	1.010	-0.688151	0.03328	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13538	2.99;2.99;2.58	5.95	5.1	0.69264	.	1.004360	0.08012	N	0.990475	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.32745	-0.9895	10	0.10636	T	0.68	.	13.1671	0.59577	0.0:0.9205:0.0:0.0795	.	303	Q9ULL8	SHRM4_HUMAN	L	303;303;187	ENSP00000289292:V303L;ENSP00000365188:V303L;ENSP00000421450:V187L	ENSP00000289292:V303L	V	-	1	0	SHROOM4	50394906	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	1.313000	0.33585	1.279000	0.44446	0.600000	0.82982	GTC		0.587	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		23	48	0	0	0	1	0	23	48				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	299	0	0	0	1	0	5	299				
RNF128	79589	broad.mit.edu	37	X	105970227	105970227	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:105970227C>T	ENST00000255499.2	+	1	334	c.84C>T	c.(82-84)gcC>gcT	p.A28A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	28					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCCTGCTGGCCCTGAGTCCGC	0.711																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(82-84)gcC>gcT		ring finger protein 128, E3 ubiquitin protein ligase							12.0	11.0	11.0					X																	105970227		2191	4283	6474	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970227C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.84C>T	X.37:g.105970227C>T						RNF128_ENST00000324342.3_Intron	p.A28A	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			1	334	+			28					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.84C>T	CCDS14521.1																																																																																				0.711	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		11	26	0	0	0	1	0	11	26				
XRN1	54464	broad.mit.edu	37	3	142094760	142094760	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:142094760A>C	ENST00000264951.4	-	25	2975	c.2858T>G	c.(2857-2859)gTg>gGg	p.V953G	XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	953					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTAAACCCACATTTGCTTT	0.403																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2857-2859)gTg>gGg		5'-3' exoribonuclease 1							90.0	84.0	86.0					3																	142094760		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142094760A>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2858T>G	3.37:g.142094760A>C	ENSP00000264951:p.Val953Gly					XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			25	2975	-			953					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2858T>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344152	0.82022	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.37752	1.18;1.18	5.78	5.78	0.91487	.	0.062617	0.64402	D	0.000006	T	0.58104	0.2099	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.62649	0.905;0.806	T	0.62315	-0.6880	10	0.87932	D	0	-11.1021	16.0952	0.81114	1.0:0.0:0.0:0.0	.	953;953	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	G	953	ENSP00000264951:V953G;ENSP00000376707:V953G	ENSP00000264951:V953G	V	-	2	0	XRN1	143577450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.209000	0.71365	0.477000	0.44152	GTG		0.403	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		63	162	0	0	0	1	0	63	162				
INTS9	55756	broad.mit.edu	37	8	28717081	28717081	+	Splice_Site	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28717081C>A	ENST00000521022.1	-	2	91		c.e2-1		INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000416984.2_Splice_Site|INTS9_ENST00000397363.4_Intron	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9						snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		ACAGGCAATACTGAAAAAAAT	0.383																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.e2-1		integrator complex subunit 9							126.0	112.0	116.0					8																	28717081		2203	4300	6503	SO:0001630	splice_region_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28717081C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.10-1G>T	8.37:g.28717081C>A						INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000521022.1_Splice_Site		NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	2	369	-		Ovarian(32;0.0439)						B7Z560|B7Z6M5|O00224|Q8TB16	Splice_Site	SNP	ENST00000521022.1	37		CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162573	0.57368	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000523436	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS9	28773000	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.720000	0.84759	2.456000	0.83038	0.655000	0.94253	.		0.383	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	Intron	29	93	1	0	8.88839e-20	1	9.74305e-20	29	93				
THBS2	7058	broad.mit.edu	37	6	169639743	169639743	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:169639743G>A	ENST00000366787.3	-	8	1329	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	360	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATGGACTGGCGCAGGTTGCAG	0.512																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1078-1080)tgC>tgT		thrombospondin 2							84.0	62.0	69.0					6																	169639743		2201	4298	6499	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169639743G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1080C>T	6.37:g.169639743G>A							p.C360C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	8	1329	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	360			VWFC.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1080C>T	CCDS34574.1																																																																																				0.512	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	53	0	0	0	1	0	5	53				
TEX10	54881	broad.mit.edu	37	9	103090198	103090198	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:103090198G>C	ENST00000374902.4	-	8	1848	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	558						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGCAAGTTGCAATGGTAAG	0.398																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1672-1674)Caa>Gaa		testis expressed 10							97.0	82.0	87.0					9																	103090198		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090198G>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1672C>G	9.37:g.103090198G>C	ENSP00000364037:p.Gln558Glu					TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	p.Q558E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1848	-		Acute lymphoblastic leukemia(62;0.0527)	558					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1672C>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593958	0.86953	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.34521	1.04	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.993	D;D;P	0.72982	0.97;0.979;0.708	T	0.63171	-0.6697	9	0.29301	T	0.29	-6.3079	19.0215	0.92917	0.0:0.0:1.0:0.0	.	561;426;558	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	E	561;558;426	.	ENSP00000364037:Q558E	Q	-	1	0	TEX10	102130019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.932000	0.92897	2.494000	0.84150	0.655000	0.94253	CAA		0.398	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		63	110	0	0	0	1	0	63	110				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		7	363	0	0	0	1	0	7	363				
MACF1	23499	broad.mit.edu	37	1	39800921	39800922	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:39800921_39800922delCT	ENST00000372915.3	+	36	8763_8764	c.8676_8677delCT	c.(8674-8679)tactctfs	p.S2893fs	MACF1_ENST00000564288.1_Frame_Shift_Del_p.S2888fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.S2925fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1328fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2893					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACACCCTTACTCTGAATGTGA	0.332																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8659-8664)tactfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800921_39800922delCT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8676_8677delCT	1.37:g.39800923_39800924delCT	ENSP00000362006:p.Ser2893fs					MACF1_ENST00000372915.3_Frame_Shift_Del_p.YS2892fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.YS1327fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.YS2924fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	p.YS2887fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9438_9439	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2892					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.8661_8662delCT																																																																																					0.332	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	305						12	305	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325312	47325315	+	RNA	DEL	AGTT	AGTT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:47325312_47325315delAGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAAGTTGTTTTAAGAC	0.412																																						ENST00000505841.1																			0																																																			0							g.chr1:47325312_47325315delAGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325312_47325315delAGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.412	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		9	304						9	304	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	1301						7	1301	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681680	152681681	+	In_Frame_Ins	INS	-	-	AGCTCTGGGGGCTGCTGT	rs6143428|rs11269814|rs200890315|rs33921874	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT	ENST00000368777.1	+	2	385_386	c.129_130insAGCTCTGGGGGCTGCTGT	c.(130-132)agc>AGCTCTGGGGGCTGCTGTagc	p.44_44S>SSGGCCS	LCE4A_ENST00000335535.3_In_Frame_Ins_p.44_44S>SSGGCCS			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	44	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GCTGTGGCTCCAGCTCTGGGGG	0.599														4009	0.800519	0.9758	0.853	5008	,	,		18534	0.6855		0.7177	False		,,,				2504	0.7301					ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(127-132)tcgctc>tcAGCTCTGGGGGCTGCTGTgctc		late cornified envelope 4A																																				SO:0001652	inframe_insertion	199834				keratinization			g.chr1:152681680_152681681insAGCTCTGGGGGCTGCTGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681680_152681681insAGCTCTGGGGGCTGCTGT	Exception_encountered					LCE4A_ENST00000335535.3_In_Frame_Ins_p.43_44SL>SALGAAVL	p.43_44SL>SALGAAVL			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	385_386	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		43			Cys-rich.		Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	c.129_130insAGCTCTGGGGGCTGCTGT	CCDS1022.1																																																																																				0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		7	783						7	783	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	476						13	476	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		10	333						10	333	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	297						8	297	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172571287	172571297	+	Frame_Shift_Del	DEL	AAATACTTCTC	AAATACTTCTC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:172571287_172571297delAAATACTTCTC	ENST00000263688.3	+	21	3321_3331	c.3102_3112delAAATACTTCTC	c.(3100-3114)cgaaatacttctcaafs	p.NTSQ1035fs	SUCO_ENST00000367723.4_Frame_Shift_Del_p.NTSQ1186fs|SUCO_ENST00000608151.1_Frame_Shift_Del_p.NTSQ1187fs|SUCO_ENST00000610051.1_Frame_Shift_Del_p.NTSQ664fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1035					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGCGTTGTCGAAATACTTCTCAATTTGATGG	0.336																																						ENST00000367723.3																			0											c.(3556-3570)cgaafs		SUN domain containing ossification factor																																				SO:0001589	frameshift_variant	51430							g.chr1:172571287_172571297delAAATACTTCTC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3102_3112delAAATACTTCTC	1.37:g.172571287_172571297delAAATACTTCTC	ENSP00000263688:p.Asn1035fs					SUCO_ENST00000263688.3_Frame_Shift_Del_p.RNTSQ1034fs|SUCO_ENST00000486569.1_3'UTR	p.RNTSQ1186fs	NM_016227.2	NP_057311.2					20	3682_3692	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	ENST00000263688.3	37	c.3558_3568delAAATACTTCTC	CCDS1303.1																																																																																				0.336	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		45	334						45	334	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276044	186276046	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:186276044_186276046delCCA	ENST00000445192.2	+	7	1238_1240	c.1193_1195delCCA	c.(1192-1197)cccacc>ccc	p.T401del	PRG4_ENST00000367483.4_In_Frame_Del_p.T360del|PRG4_ENST00000367486.3_In_Frame_Del_p.T358del|PRG4_ENST00000367484.3_In_Frame_Del_p.T360del|PRG4_ENST00000367485.4_In_Frame_Del_p.T308del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.65																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1192-1197)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276044_186276046delCCA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1193_1195delCCA	1.37:g.186276053_186276055delCCA	ENSP00000399679:p.Thr401del					PRG4_ENST00000367486.3_In_Frame_Del_p.PT355del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT305del|PRG4_ENST00000367484.3_In_Frame_Del_p.PT357del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT357del	p.PT398del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1238_1240	+			398			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1193_1195delCCA	CCDS1369.1																																																																																				0.650	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	765						11	765	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	281						8	281	---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482718	54482719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:54482718_54482719insC	ENST00000317802.7	-	1	690_691	c.570_571insG	c.(568-573)gggcccfs	p.P191fs	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	191					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCGGGCCCGGGCCCAGGCCCTG	0.614																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(568-573)ggccggfs		TSPY-like 6																																				SO:0001589	frameshift_variant	388951				nucleosome assembly	nucleus		g.chr2:54482718_54482719insC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.571dupG	2.37:g.54482721_54482721dupC	ENSP00000417919:p.Pro191fs					ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	p.R191fs	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	690_691	-			191					Q6NUJ3	Frame_Shift_Ins	INS	ENST00000317802.7	37	c.570_571insG	CCDS42682.1																																																																																				0.614	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		16	202						16	202	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		10	371						10	371	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9027284	9027286	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9027284_9027286delGCT	ENST00000383836.3	-	22	3644_3646	c.3217_3219delAGC	c.(3217-3219)agcdel	p.S1074del	SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1074					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACGCCCGAGCTGCTGCTGCTG	0.739			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3217-3219)del		SLIT-ROBO Rho GTPase activating protein 3			,	43,4199		2,39,2080					,	3.9	0.9			24	99,8113		4,91,4011	no	coding,coding	SRGAP3	NM_014850.2,NM_001033117.1	,	6,130,6091	A1A1,A1R,RR		1.2056,1.0137,1.1402	,	,		142,12312				SO:0001651	inframe_deletion	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9027284_9027286delGCT	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.3217_3219delAGC	3.37:g.9027293_9027295delGCT	ENSP00000373347:p.Ser1074del					SRGAP3_ENST00000360413.3_In_Frame_Del_p.S1050del	p.S1074del	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	22	3644_3646	-			1074					Q8IX13|Q8IZV8	In_Frame_Del	DEL	ENST00000383836.3	37	c.3217_3219delAGC	CCDS2572.1																																																																																				0.739	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	143						8	143	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	TGC	-	rs370638902		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:71247357_71247359delTGC	ENST00000318789.4	-	6	699_701	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_ENST00000493089.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000468577.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000484350.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000475937.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000498215.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000318779.3_In_Frame_Del_p.58_59QQ>Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	58	Gln-rich.	Breakpoint for translocation to form PAX5-FOXP1.			negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(172-177)caa>ca		forkhead box P1																																				SO:0001651	inframe_deletion	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71247357_71247359delTGC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.174_176delGCA	3.37:g.71247366_71247368delTGC	ENSP00000318902:p.Gln60del					FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del	p.QQ58del	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	6	699_701	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	58			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	In_Frame_Del	DEL	ENST00000318789.4	37	c.174_176delGCA	CCDS2914.1																																																																																				0.586	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		7	412						7	412	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	994						8	994	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85556475	85556475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:85556475delT	ENST00000295887.5	+	8	1204	c.781delT	c.(781-783)tttfs	p.F263fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCTTTTTGGATTTTTTTTTGG	0.308																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(781-783)ttfs		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							114.0	121.0	118.0					4																	85556475		2203	4300	6503	SO:0001589	frameshift_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556475delT	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.781delT	4.37:g.85556475delT	ENSP00000295887:p.Phe263fs						p.F263fs	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1204	+		Hepatocellular(203;0.114)	263					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Del	DEL	ENST00000295887.5	37	c.781delT	CCDS3608.1																																																																																				0.308	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			8	383						8	383	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	169						7	169	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123980108	123980111	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123980108_123980111delTCTT	ENST00000306315.5	-	5	4384_4387	c.3949_3952delAAGA	c.(3949-3954)aagactfs	p.KT1317fs	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1317							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCACAGGAGTCTTTCGATCATCA	0.461																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3949-3954)ctfs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123980108_123980111delTCTT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3949_3952delAAGA	5.37:g.123980108_123980111delTCTT	ENSP00000307746:p.Lys1317fs					ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	p.KT1317fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4384_4387	-		all_cancers(142;0.186)|Prostate(80;0.081)	1317					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Del	DEL	ENST00000306315.5	37	c.3949_3952delAAGA	CCDS34219.1																																																																																				0.461	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		10	582						10	582	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)ggcfs	p.G438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1312-1314)gcgfs		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149510155_149510156insC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1314dupG	5.37:g.149510157_149510157dupC	ENSP00000261799:p.Gly438fs		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.A438fs	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1782_1783	-		all_hematologic(541;0.224)	438			Ig-like C2-type 5.		B5A957|Q8N5L4	Frame_Shift_Ins	INS	ENST00000261799.4	37	c.1313_1314insG	CCDS4303.1																																																																																				0.614	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		19	763						19	763	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		7	26						7	26	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			10	47						10	47	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:72040750_72040751insA	ENST00000435769.2	-	0	1909				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AACATCCCTAGAAAAAAAAAAT	0.332																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040750_72040751insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040760_72040760dupA										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.332	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	131						7	131	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		8	725						8	725	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.69																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1822-1827)ctc>c		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100281686_100281688delGCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1823_1825delAGC	7.37:g.100281695_100281697delGCT	ENSP00000275732:p.Gln608del						p.QL608del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			15	3032_3034	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		608			Gln-rich.|Poly-Gln.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1823_1825delAGC	CCDS34708.1																																																																																				0.690	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	186						8	186	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142459745	142459747	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142459745_142459747delCAT	ENST00000311737.7	+	3	327_329	c.321_323delCAT	c.(319-324)gacatc>gac	p.I108del	PRSS1_ENST00000486171.1_In_Frame_Del_p.I122del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	108	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGAACAATGACATCATGTTAATC	0.547																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(361-366)gac>ga		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459745_142459747delCAT	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.321_323delCAT	7.37:g.142459748_142459750delCAT	ENSP00000308720:p.Ile108del					PRSS1_ENST00000311737.7_In_Frame_Del_p.DI107del	p.DI121del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	380_382	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	107			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.363_365delCAT	CCDS5872.1																																																																																				0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			313	458						313	458	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142460367	142460369	+	In_Frame_Del	DEL	CAG	CAG	-	rs376907511|rs201719096		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142460367_142460369delCAG	ENST00000311737.7	+	4	546_548	c.540_542delCAG	c.(538-543)accagc>acc	p.S181del	PRSS1_ENST00000486171.1_In_Frame_Del_p.S195del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GAAAGATTACCAGCAACATGTTC	0.557																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(580-585)acc>ac		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460367_142460369delCAG	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.540_542delCAG	7.37:g.142460367_142460369delCAG	ENSP00000308720:p.Ser181del					PRSS1_ENST00000311737.7_In_Frame_Del_p.TS180del	p.TS194del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	599_601	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	180			Peptidase S1.	Required for specificity (By similarity).	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.582_584delCAG	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			34	1065						34	1065	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-	rs571456178		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)aagfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)agfs		testis expressed 15							183.0	183.0	183.0					8																	30695491		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695491delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160delA	8.37:g.30695491delT	ENSP00000256246:p.Lys2387fs						p.K2387fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7160delA	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	511						9	511	---	---	---	---
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		8	181						8	181	---	---	---	---
PRSS3	5646	broad.mit.edu	37	9	33798572	33798574	+	In_Frame_Del	DEL	CAG	CAG	-	rs201773718		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:33798572_33798574delCAG	ENST00000361005.5	+	4	714_716	c.714_716delCAG	c.(712-717)aacagc>aac	p.S239del	PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000342836.4_In_Frame_Del_p.S196del|PRSS3_ENST00000379405.3_In_Frame_Del_p.S182del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_In_Frame_Del_p.S175del	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGATTACCAACAGCATGTTCTGT	0.576																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(712-717)aac>aa		protease, serine, 3																																				SO:0001651	inframe_deletion	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33798572_33798574delCAG		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.714_716delCAG	9.37:g.33798572_33798574delCAG	ENSP00000354280:p.Ser239del					PRSS3_ENST00000379405.3_In_Frame_Del_p.NS181del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000429677.3_In_Frame_Del_p.NS174del|PRSS3_ENST00000342836.4_In_Frame_Del_p.NS195del	p.NS238del	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		4	714_716	+			238			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	In_Frame_Del	DEL	ENST00000361005.5	37	c.714_716delCAG	CCDS47958.1																																																																																				0.576	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		13	722						13	722	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			7	147						7	147	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107591266	107591282	+	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-	rs144845639|rs2853579	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	ENST00000374736.3	-	15	2424_2440	c.2030_2046delACAACAGCATCCTCTGG	c.(2029-2046)gacaacagcatcctctggfs	p.DNSILW677fs	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT	0.539																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2029-2046)gfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2030_2046delACAACAGCATCCTCTGG	9.37:g.107591266_107591282delCCAGAGGATGCTGTTGT	ENSP00000363868:p.Asp677fs					ABCA1_ENST00000494467.1_5'UTR	p.DNSILW677fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2424_2440	-			677					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.2030_2046delACAACAGCATCCTCTGG	CCDS6762.1																																																																																				0.539	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		22	191						22	191	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		15	552						15	552	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T	rs370698632		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.510	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	595						8	595	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	292						8	292	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		12	535						12	535	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-	rs200495212	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:25525716delA	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TGGAAGAAACAAAAAAAAGAA	0.383													AAAAAAA|AAAAAAAA|AAAAAAA|insertion	774	0.154553	0.1256	0.1571	5008	,	,		14949	0.2123		0.162	False		,,,				2504	0.1247					ENST00000429698.1																			0																																																			0							g.chr13:25525716delA			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25525716delA														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.383	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			5	11						5	11	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32937480	32937480	+	Frame_Shift_Del	DEL	A	A	-	rs80359059		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:32937480delA	ENST00000380152.3	+	18	8374	c.8141delA	c.(8140-8142)caafs	p.Q2714fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.Q2714fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2714					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCAGATACCCAAAAAGTGGCC	0.398			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8140-8142)cafs	Homologous recombination	breast cancer 2, early onset							138.0	135.0	136.0					13																	32937480		2203	4300	6503	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937480delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8141delA	13.37:g.32937480delA	ENSP00000369497:p.Gln2714fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.Q2714fs	p.Q2714fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8368	+		Lung SC(185;0.0262)	2714					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.8141delA	CCDS9344.1																																																																																				0.398	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		137	340						137	340	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(688-693)gcc>gc		Zic family member 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.AH230del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	983_985	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		230			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	216						9	216	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1000-1002)ctfs		transmembrane 6 superfamily member 1							115.0	114.0	114.0					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	53346					integral to membrane		g.chr15:83805312delT	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs					TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs	p.L334fs			Q9BZW5	TM6S1_HUMAN			10	1275	+			334					A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	ENST00000322019.9	37	c.1001delT	CCDS10323.1																																																																																				0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		7	625						7	625	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			10	119						10	119	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			9	87						9	87	---	---	---	---
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-	rs371145262		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.660	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		8	138						8	138	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		13	297						13	297	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		9	392						9	392	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76047129	76047153	+	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-	rs114241857|rs373111046	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENST00000588061.1	+	5	2713_2737	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	c.(1984-2010)ggcccccaacagaactgggctagcaaafs	p.GPQQNWASK662fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	662	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA	0.538																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1984-2010)ggfs		trinucleotide repeat containing 6C																																				SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	17.37:g.76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENSP00000468647:p.Gly662fs					TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs	p.GPQQNWASK662fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2555_2579	+			662			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	CCDS45798.1																																																																																				0.538	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	87						9	87	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			8	660						8	660	---	---	---	---
RP11-905K4.1	0	broad.mit.edu	37	18	33545155	33545156	+	lincRNA	DEL	CT	CT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:33545155_33545156delCT	ENST00000589074.1	-	0	374																											cctcctcttcctcttcttcttt	0.48																																						ENST00000589074.1																			0																																																			0							g.chr18:33545155_33545156delCT																													18.37:g.33545157_33545158delCT														0	374	-									RNA	DEL	ENST00000589074.1	37																																																																																						0.480	RP11-905K4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444189.1			2	4						2	4	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		7	155						7	155	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		12	165						12	165	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																						ENST00000377214.4																			1	Deletion - Frameshift(1)	p.H295fs*12(1)	ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(892-894)tgcfs		TEA domain family member 2																																				SO:0001589	frameshift_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850472_49850473insG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs					TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs	p.C298fs			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1254_1255	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	295			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	ENST00000311227.2	37	c.892_893insC	CCDS12761.1																																																																																				0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		8	870						8	870	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50753776	50753777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:50753776_50753777insC	ENST00000596571.1	+	13	1637_1638	c.1637_1638insC	c.(1636-1641)aaccccfs	p.NP546fs	MYH14_ENST00000440075.2_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000376970.2_Frame_Shift_Ins_p.NP546fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.NP554fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.NP554fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	546	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCAGGCCAACCCCCCTGGAC	0.574																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1660-1662)accfs		myosin, heavy chain 14, non-muscle																																				SO:0001589	frameshift_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50753776_50753777insC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1643dupC	19.37:g.50753782_50753782dupC	ENSP00000472819:p.Asn546fs					MYH14_ENST00000376970.2_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000596571.1_Frame_Shift_Ins_p.T546fs|MYH14_ENST00000425460.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000262269.8_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000598205.1_Frame_Shift_Ins_p.T554fs|MYH14_ENST00000601313.1_Frame_Shift_Ins_p.T554fs	p.T554fs			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	15	1708_1709	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	546			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Ins	INS	ENST00000596571.1	37	c.1661_1662insC	CCDS59411.1																																																																																				0.574	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		21	68						21	68	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.K133N(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(397-402)aaaaaafs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			4	574_575	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		8	370						8	370	---	---	---	---
PIR	8544	broad.mit.edu	37	X	15497935	15497946	+	Splice_Site	DEL	GATTTTTTAACT	GATTTTTTAACT	-	rs545530472		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:15497935_15497946delGATTTTTTAACT	ENST00000380421.3	-	3	557_566	c.97_106delAGTTAAAAAATC	c.(97-108)agttaaaaaatc>tc	p.S*KI33del	PIR_ENST00000380420.5_Splice_Site_p.S*KI33del|PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	33					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AACGGATCCAGATTTTTTAACTGAAATAAAAA	0.335																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e3-1		pirin (iron-binding nuclear protein)																																				SO:0001630	splice_region_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15497935_15497946delGATTTTTTAACT	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.97-1AGTTAAAAAATC>-	X.37:g.15497935_15497946delGATTTTTTAACT						BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Splice_Site_p.33_splice	p.33_splice	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			3	557_566	-	Hepatocellular(33;0.183)		33					Q5U0G0|Q6FHD2	Splice_Site	DEL	ENST00000380421.3	37	c.96_splice	CCDS14167.1																																																																																				0.335	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662	In_Frame_Del	9	170						9	170	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1473						9	1473	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	348						7	348	---	---	---	---
