#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
ROBO3	64221	broad.mit.edu	37	11	124747166	124747166	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747166C>T	ENST00000397801.1	+	19	2999	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.S914F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCCCAGTGTCCTTCCCGCAC	0.607																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2806-2808)tCc>tTc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							125.0	118.0	120.0					11																	124747166		1890	4106	5996	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124747166C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2807C>T	11.37:g.124747166C>T	ENSP00000380903:p.Ser936Phe					ROBO3_ENST00000538940.1_Missense_Mutation_p.S914F|ROBO3_ENST00000525482.1_Intron	p.S936F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	19	2999	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	936						Missense_Mutation	SNP	ENST00000397801.1	37	c.2807C>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069619	0.76301	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.65916	-0.18;-0.17	5.4	5.4	0.78164	.	0.195251	0.25394	N	0.030982	T	0.65688	0.2715	L	0.47716	1.5	0.80722	D	1	P	0.49783	0.928	P	0.50659	0.647	T	0.69154	-0.5220	10	0.87932	D	0	.	14.5726	0.68220	0.0:0.8548:0.1452:0.0	.	936	Q96MS0	ROBO3_HUMAN	F	936;914	ENSP00000380903:S936F;ENSP00000441797:S914F	ENSP00000380903:S936F	S	+	2	0	ROBO3	124252376	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.547000	0.45786	2.518000	0.84900	0.655000	0.94253	TCC		0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	84	0	0	0	1	0	9	84				
ZNF599	148103	broad.mit.edu	37	19	35251188	35251188	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:35251188G>A	ENST00000329285.8	-	4	891	c.518C>T	c.(517-519)aCt>aTt	p.T173I		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	173					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)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTTGTGGAGTGACTCGTTC	0.458																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(517-519)aCt>aTt		zinc finger protein 599							158.0	144.0	149.0					19																	35251188		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251188G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.518C>T	19.37:g.35251188G>A	ENSP00000333802:p.Thr173Ile						p.T173I	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	891	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		173					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.518C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	2.036	-0.421266	0.04734	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22336	1.96	2.43	-1.37	0.09056	.	.	.	.	.	T	0.12178	0.0296	N	0.22421	0.69	0.09310	N	0.999999	B	0.16166	0.016	B	0.17433	0.018	T	0.29397	-1.0013	9	0.46703	T	0.11	.	5.8005	0.18412	0.1248:0.3746:0.5006:0.0	.	173	Q96NL3	ZN599_HUMAN	I	172;173	ENSP00000333802:T173I	ENSP00000333802:T173I	T	-	2	0	ZNF599	39943028	0.001000	0.12720	0.019000	0.16419	0.306000	0.27790	0.214000	0.17541	-0.185000	0.10550	-0.479000	0.04858	ACT		0.458	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		26	90	0	0	0	1	0	26	90				
RSPH9	221421	broad.mit.edu	37	6	43638684	43638684	+	Nonstop_Mutation	SNP	T	T	C	rs141935442		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:43638684T>C	ENST00000372163.4	+	5	882	c.829T>C	c.(829-831)Tag>Cag	p.*277Q	RSPH9_ENST00000372165.4_Missense_Mutation_p.I294T	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTTCATGCTATAGAATGGGAG	0.493									Kartagener syndrome																													ENST00000372163.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(829-831)Tag>Cag		radial spoke head 9 homolog (Chlamydomonas)		T	THR/ILE,GLN/stop	0,4406		0,0,2203	71.0	57.0	62.0		881,829	5.8	1.0	6	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,stop-lost	RSPH9	NM_001193341.1,NM_152732.4	89,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	294/307,277/277	43638684	1,13005	2203	4300	6503	SO:0001578	stop_lost	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43638684T>C	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.829T>C	6.37:g.43638684T>C	ENSP00000361236:p.*277Glnext*9					RSPH9_ENST00000372165.4_Missense_Mutation_p.I294T	p.*277Q	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN			5	882	+			0					A8K5T4|Q96NH9	Nonstop_Mutation	SNP	ENST00000372163.4	37	c.829T>C	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.00|14.00	2.405745|2.405745	0.42715|0.42715	0.0|0.0	1.16E-4|1.16E-4	ENSG00000172426|ENSG00000172426	ENST00000372165|ENST00000372163	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	2.259970|.	0.01293|.	N|.	0.010097|.	T|.	0.29288|.	0.0729|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.24721|.	0.11|.	B|.	0.22601|.	0.04|.	T|.	0.23013|.	-1.0200|.	8|.	0.72032|.	D|.	0.01|.	-2.6011|-2.6011	14.0039|14.0039	0.64451|0.64451	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294|.	Q96NH9|.	.|.	T|Q	294|277	.|.	ENSP00000361238:I294T|.	I|X	+|+	2|1	0|0	RSPH9|RSPH9	43746662|43746662	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.374000|0.374000	0.29953|0.29953	7.451000|7.451000	0.80668|0.80668	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	ATA|TAG		0.493	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		5	37	0	0	0	1	0	5	37				
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:152277201G>C	ENST00000368799.1	-	3	10196	c.10161C>G	c.(10159-10161)ctC>ctG	p.L3387L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10159-10161)ctC>ctG		filaggrin							227.0	251.0	243.0					1																	152277201		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277201G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10161C>G	1.37:g.152277201G>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L3387L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10196	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3387			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10161C>G	CCDS30860.1																																																																																				0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		77	332	0	0	0	1	0	77	332				
AKAP7	9465	broad.mit.edu	37	6	131520706	131520706	+	Missense_Mutation	SNP	G	G	A	rs186732768		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:131520706G>A	ENST00000431975.2	+	6	793	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AKAP7_ENST00000541650.1_Missense_Mutation_p.R231H|AKAP7_ENST00000537868.1_5'Flank|AKAP7_ENST00000263050.3_5'Flank|AKAP7_ENST00000368123.4_Missense_Mutation_p.R210H	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	232						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CCGTGGCTCCGTAAGAATGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.0		0.001	False		,,,				2504	0.0					ENST00000431975.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(694-696)cGt>cAt		A kinase (PRKA) anchor protein 7							128.0	106.0	114.0					6																	131520706		2203	4300	6503	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131520706G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.695G>A	6.37:g.131520706G>A	ENSP00000405252:p.Arg232His		OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1588	AKAP7_ENST00000541650.1_Missense_Mutation_p.R231H|AKAP7_ENST00000368123.4_Missense_Mutation_p.R210H	p.R232H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	6	793	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.695G>A	CCDS5142.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.63	1.995694	0.35226	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.64085	-0.08;-0.08;-0.08	5.36	2.39	0.29439	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.476376	0.17573	N	0.169396	T	0.35422	0.0931	M	0.73962	2.25	0.23168	N	0.998189	P;B	0.34546	0.456;0.36	B;B	0.28784	0.081;0.094	T	0.26780	-1.0093	10	0.51188	T	0.08	-7.2771	4.6297	0.12495	0.1837:0.0:0.6431:0.1732	.	231;232	F5GXD1;Q9P0M2	.;AKA7G_HUMAN	H	232;231;210	ENSP00000405252:R232H;ENSP00000441048:R231H;ENSP00000357105:R210H	ENSP00000357105:R210H	R	+	2	0	AKAP7	131562399	0.472000	0.25870	0.889000	0.34880	0.702000	0.40608	1.093000	0.30939	0.726000	0.32339	0.655000	0.94253	CGT		0.453	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		11	31	0	0	0	1	0	11	31				
COLGALT1	79709	broad.mit.edu	37	19	17671238	17671238	+	Silent	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:17671238G>T	ENST00000252599.4	+	3	573	c.453G>T	c.(451-453)ctG>ctT	p.L151L		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	151					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										AGGCAGCCCTGAAATCAGCTC	0.582																																						ENST00000252599.4																			0											c.(451-453)ctG>ctT		collagen beta(1-O)galactosyltransferase 1							110.0	95.0	100.0					19																	17671238		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17671238G>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.453G>T	19.37:g.17671238G>T							p.L151L	NM_024656.2	NP_078932.2					3	573	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.453G>T	CCDS12363.1																																																																																				0.582	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		15	46	1	0	1.49906e-05	1	1.52607e-05	15	46				
ZBTB41	360023	broad.mit.edu	37	1	197128614	197128614	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:197128614T>C	ENST00000367405.4	-	10	2673	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	869					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGT	0.408																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(2605-2607)Ata>Gta		zinc finger and BTB domain containing 41							234.0	236.0	236.0					1																	197128614		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128614T>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2605A>G	1.37:g.197128614T>C	ENSP00000356375:p.Ile869Val					ZBTB41_ENST00000467322.1_5'UTR	p.I869V	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			10	2673	-			869					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2605A>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121309	0.37436	.	.	ENSG00000177888	ENST00000367405	T	0.06218	3.33	5.63	4.47	0.54385	.	0.137437	0.30999	N	0.008455	T	0.06462	0.0166	L	0.32530	0.975	0.34421	D	0.697432	B	0.19583	0.037	B	0.15484	0.013	T	0.08086	-1.0739	10	0.87932	D	0	.	11.5229	0.50562	0.0:0.0:0.2857:0.7143	.	869	Q5SVQ8	ZBT41_HUMAN	V	869	ENSP00000356375:I869V	ENSP00000356375:I869V	I	-	1	0	ZBTB41	195395237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.410000	0.44592	0.932000	0.37266	0.482000	0.46254	ATA		0.408	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		20	145	0	0	0	1	0	20	145				
TRRAP	8295	broad.mit.edu	37	7	98581772	98581772	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:98581772A>G	ENST00000359863.4	+	60	9300	c.9091A>G	c.(9091-9093)Atg>Gtg	p.M3031V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3002V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3002V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3031	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATAACGCTATGCTTGGGGT	0.453																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9091-9093)Atg>Gtg		transformation/transcription domain-associated protein							139.0	127.0	131.0					7																	98581772		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581772A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9091A>G	7.37:g.98581772A>G	ENSP00000352925:p.Met3031Val					TRRAP_ENST00000446306.3_Missense_Mutation_p.M3002V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3002V	p.M3031V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9300	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3031			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9091A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176643	0.57692	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02890	4.12;4.18	5.26	5.26	0.73747	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.04407	0.0121	L	0.49350	1.555	0.80722	D	1	B;P;P	0.40282	0.404;0.459;0.711	B;B;B	0.37346	0.159;0.247;0.247	T	0.53019	-0.8497	10	0.34782	T	0.22	.	15.1768	0.72920	1.0:0.0:0.0:0.0	.	3002;2741;3031	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	V	3031;3002;3001	ENSP00000352925:M3031V;ENSP00000347733:M3002V	ENSP00000347733:M3002V	M	+	1	0	TRRAP	98419708	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.200000	0.77838	2.008000	0.58898	0.533000	0.62120	ATG		0.453	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		30	68	0	0	0	1	0	30	68				
PCNT	5116	broad.mit.edu	37	21	47836038	47836038	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr21:47836038A>C	ENST00000359568.5	+	30	6313	c.6206A>C	c.(6205-6207)cAg>cCg	p.Q2069P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2069					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCGTAGCTCAGGTGAAACAG	0.502																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6205-6207)cAg>cCg		pericentrin							81.0	77.0	78.0					21																	47836038		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836038A>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6206A>C	21.37:g.47836038A>C	ENSP00000352572:p.Gln2069Pro					PCNT_ENST00000480896.1_3'UTR	p.Q2069P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6313	+	Breast(49;0.112)		2069					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6206A>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753546	0.49362	.	.	ENSG00000160299	ENST00000359568	T	0.03441	3.93	5.25	5.25	0.73442	.	0.000000	0.30704	N	0.009058	T	0.13372	0.0324	L	0.50333	1.59	0.36646	D	0.877105	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.02477	-1.1153	10	0.66056	D	0.02	.	13.3825	0.60775	1.0:0.0:0.0:0.0	.	1951;2069	O95613-2;O95613	.;PCNT_HUMAN	P	2069	ENSP00000352572:Q2069P	ENSP00000352572:Q2069P	Q	+	2	0	PCNT	46660466	1.000000	0.71417	0.993000	0.49108	0.162000	0.22319	4.382000	0.59594	2.105000	0.64084	0.533000	0.62120	CAG		0.502	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	34	0	0	0	1	0	4	34				
ZBBX	79740	broad.mit.edu	37	3	167031869	167031869	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:167031869G>A	ENST00000392766.2	-	16	1650	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	ZBBX_ENST00000392764.1_Missense_Mutation_p.P408L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P437L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P437L|ZBBX_ENST00000392767.2_Missense_Mutation_p.P437L|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	437						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTCATATGGAAAGCTATT	0.284																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1309-1311)cCa>cTa		zinc finger, B-box domain containing							100.0	93.0	95.0					3																	167031869		1823	4080	5903	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031869G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1310C>T	3.37:g.167031869G>A	ENSP00000376519:p.Pro437Leu					ZBBX_ENST00000392764.1_Missense_Mutation_p.P408L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P437L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P437L|ZBBX_ENST00000392767.2_Missense_Mutation_p.P437L	p.P437L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1650	-			437					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1310C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	0.146	-1.097162	0.01843	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09723	3.12;3.12;3.12;3.12;2.95	5.29	-3.68	0.04463	.	1.081860	0.07107	N	0.841478	T	0.03783	0.0107	N	0.08118	0	0.09310	N	0.999996	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.42649	-0.9439	10	0.02654	T	1	3.1227	5.9346	0.19158	0.3469:0.0:0.4467:0.2064	.	437;437	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	437;437;437;437;408	ENSP00000376519:P437L;ENSP00000376520:P437L;ENSP00000390232:P437L;ENSP00000305065:P437L;ENSP00000376517:P408L	ENSP00000305065:P437L	P	-	2	0	ZBBX	168514563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.035000	0.03564	-0.891000	0.03940	-1.752000	0.00675	CCA		0.284	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		29	139	0	0	0	1	0	29	139				
CELA2B	51032	broad.mit.edu	37	1	15812463	15812463	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:15812463C>A	ENST00000375910.3	+	6	586	c.561C>A	c.(559-561)tcC>tcA	p.S187S		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	187	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCACCTGCTCCAGCTCTGGCT	0.572																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(559-561)tcC>tcA		chymotrypsin-like elastase family, member 2B							169.0	170.0	170.0					1																	15812463		2203	4300	6503	SO:0001819	synonymous_variant	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15812463C>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.561C>A	1.37:g.15812463C>A							p.S187S	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			6	586	+			187			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	c.561C>A	CCDS30605.1																																																																																				0.572	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		110	133	1	0	2.25818e-43	1	2.50171e-43	110	133				
TNXB	7148	broad.mit.edu	37	6	32047086	32047086	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:32047086G>A	ENST00000375244.3	-	11	4300	c.4099C>T	c.(4099-4101)Ccg>Tcg	p.P1367S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1367S|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1454	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGACTCCGGGGCCTCCGTG	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4099-4101)Ccg>Tcg		tenascin XB							40.0	46.0	44.0					6																	32047086		1192	2515	3707	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32047086G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4099C>T	6.37:g.32047086G>A	ENSP00000364393:p.Pro1367Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.P1367S	p.P1367S			P22105	TENX_HUMAN			11	4300	-			1454			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4099C>T		.	.	.	.	.	.	.	.	.	.	G	8.455	0.854008	0.17106	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58060	0.52;0.36	4.71	3.84	0.44239	.	0.524091	0.14493	N	0.316246	T	0.22589	0.0545	L	0.36672	1.1	0.23838	N	0.996708	B	0.09022	0.002	B	0.11329	0.006	T	0.18745	-1.0327	10	0.42905	T	0.14	.	9.4186	0.38536	0.1018:0.0:0.8982:0.0	.	1367	P22105-3	.	S	1367	ENSP00000364393:P1367S;ENSP00000364396:P1367S	ENSP00000364393:P1367S	P	-	1	0	TNXB	32155064	1.000000	0.71417	0.350000	0.25708	0.030000	0.12068	2.868000	0.48436	1.107000	0.41642	0.491000	0.48974	CCG		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	44	0	0	0	1	0	17	44				
OR2T33	391195	broad.mit.edu	37	1	248436936	248436936	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:248436936G>A	ENST00000318021.2	-	1	202	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTTGGCTCAGGAGGAAGTAC	0.542																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(181-183)Ctg>Ttg		olfactory receptor, family 2, subfamily T, member 33							82.0	75.0	77.0					1																	248436936		2202	4300	6502	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436936G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.181C>T	1.37:g.248436936G>A							p.L61L	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	202	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		61					B2RNN0	Silent	SNP	ENST00000318021.2	37	c.181C>T	CCDS31109.1																																																																																				0.542	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		10	83	0	0	0	1	0	10	83				
DNAH7	56171	broad.mit.edu	37	2	196834727	196834727	+	Missense_Mutation	SNP	C	C	T	rs200552499		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:196834727C>T	ENST00000312428.6	-	17	2250	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	717	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTAGGTACCGCTGAACATC	0.328																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2149-2151)cGg>cAg		dynein, axonemal, heavy chain 7							87.0	80.0	82.0					2																	196834727		1824	4077	5901	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834727C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2150G>A	2.37:g.196834727C>T	ENSP00000311273:p.Arg717Gln						p.R717Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			17	2250	-			717			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2150G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	7.379	0.628483	0.14257	.	.	ENSG00000118997	ENST00000312428	T	0.21031	2.03	5.35	4.48	0.54585	.	0.075946	0.50627	D	0.000107	T	0.19046	0.0457	M	0.70595	2.14	0.80722	D	1	P	0.46512	0.879	B	0.34180	0.177	T	0.07121	-1.0789	10	0.23302	T	0.38	.	10.4656	0.44604	0.0:0.8482:0.0:0.1518	.	717	Q8WXX0	DYH7_HUMAN	Q	717	ENSP00000311273:R717Q	ENSP00000311273:R717Q	R	-	2	0	DNAH7	196542972	0.998000	0.40836	0.154000	0.22540	0.554000	0.35429	2.106000	0.41835	1.404000	0.46819	-0.444000	0.05651	CGG		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	79	0	0	0	1	0	18	79				
SMOC1	64093	broad.mit.edu	37	14	70418879	70418879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:70418879C>T	ENST00000381280.4	+	2	377	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q42*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	42	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCGTGACCCACAGTGCAACCT	0.502																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(124-126)Cag>Tag		SPARC related modular calcium binding 1							124.0	115.0	118.0					14																	70418879		2203	4300	6503	SO:0001587	stop_gained	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418879C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.124C>T	14.37:g.70418879C>T	ENSP00000370680:p.Gln42*					SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q42*	p.Q42*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	377	+			42			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Nonsense_Mutation	SNP	ENST00000381280.4	37	c.124C>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	39	7.309870	0.98203	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	.	.	.	5.44	5.44	0.79542	.	0.216499	0.40640	N	0.001042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-10.7452	19.2675	0.93996	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000355110:Q42X	Q	+	1	0	SMOC1	69488632	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.475000	0.53136	2.573000	0.86826	0.655000	0.94253	CAG		0.502	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			20	69	0	0	0	1	0	20	69				
LRRCC1	85444	broad.mit.edu	37	8	86044107	86044107	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:86044107G>A	ENST00000360375.3	+	12	2028	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E607K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	627					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAATACCAAGAGAAAATTGA	0.353																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1819-1821)Gag>Aag		leucine rich repeat and coiled-coil centrosomal protein 1							114.0	107.0	109.0					8																	86044107		1836	4084	5920	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044107G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1879G>A	8.37:g.86044107G>A	ENSP00000353538:p.Glu627Lys					LRRCC1_ENST00000360375.3_Missense_Mutation_p.E627K	p.E607K			Q9C099	LRCC1_HUMAN			11	2708	+			627					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1819G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320962	0.60634	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.37411	1.2;1.2	5.64	3.75	0.43078	.	0.624264	0.13228	N	0.403859	T	0.35364	0.0929	L	0.53249	1.67	0.50313	D	0.999861	B;P;P;P	0.48694	0.328;0.868;0.465;0.914	B;B;B;B	0.43575	0.178;0.359;0.178;0.424	T	0.08289	-1.0729	10	0.25751	T	0.34	-1.2734	11.3214	0.49424	0.0687:0.1268:0.8045:0.0	.	534;607;534;627	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	K	627;607	ENSP00000353538:E627K;ENSP00000394695:E607K	ENSP00000353538:E627K	E	+	1	0	LRRCC1	86231359	1.000000	0.71417	0.849000	0.33467	0.282000	0.26991	4.056000	0.57448	1.543000	0.49345	0.650000	0.86243	GAG		0.353	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		12	51	0	0	0	1	0	12	51				
H2BFWT	158983	broad.mit.edu	37	X	103267793	103267793	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:103267793G>A	ENST00000217926.5	-	1	466	c.440C>T	c.(439-441)cCg>cTg	p.P147L	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	147						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CATCTGCCCCGGCAGCAGCAG	0.687																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(439-441)cCg>cTg		H2B histone family, member W, testis-specific							28.0	29.0	29.0					X																	103267793		2202	4296	6498	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267793G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.440C>T	X.37:g.103267793G>A	ENSP00000354723:p.Pro147Leu						p.P147L	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	466	-			147					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.440C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	17.31	3.357596	0.61293	.	.	ENSG00000123569	ENST00000217926	T	0.60797	0.16	2.84	1.97	0.26223	Histone-fold (2);	0.148658	0.22936	N	0.053844	T	0.36744	0.0978	N	0.24115	0.695	0.58432	D	0.999992	P	0.51537	0.946	B	0.38842	0.283	T	0.22871	-1.0204	10	0.87932	D	0	.	7.2759	0.26283	0.145:0.0:0.855:0.0	.	147	Q7Z2G1	H2BWT_HUMAN	L	147	ENSP00000354723:P147L	ENSP00000354723:P147L	P	-	2	0	H2BFWT	103154449	1.000000	0.71417	0.096000	0.21009	0.013000	0.08279	7.628000	0.83189	0.617000	0.30160	0.600000	0.82982	CCG		0.687	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		14	54	0	0	0	1	0	14	54				
IFT52	51098	broad.mit.edu	37	20	42264608	42264608	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:42264608C>A	ENST00000373030.3	+	11	1096	c.966C>A	c.(964-966)ctC>ctA	p.L322L	IFT52_ENST00000373039.4_Silent_p.L322L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	322					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACTCCAGCTCATCCAGCCTC	0.517																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(964-966)ctC>ctA		intraflagellar transport 52 homolog (Chlamydomonas)							110.0	99.0	102.0					20																	42264608		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42264608C>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.966C>A	20.37:g.42264608C>A						IFT52_ENST00000373039.4_Silent_p.L322L	p.L322L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1096	+		Myeloproliferative disorder(115;0.00452)	322					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.966C>A	CCDS33470.1																																																																																				0.517	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		14	36	1	0	2.23348e-06	1	2.2944e-06	14	36				
WDR70	55100	broad.mit.edu	37	5	37396550	37396550	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396550C>T	ENST00000265107.4	+	5	526	c.370C>T	c.(370-372)Cct>Tct	p.P124S	WDR70_ENST00000504564.1_Missense_Mutation_p.P124S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	124							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTTTACCCCCTAAAATGGT	0.408																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(370-372)Cct>Tct		WD repeat domain 70							119.0	113.0	115.0					5																	37396550		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37396550C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.370C>T	5.37:g.37396550C>T	ENSP00000265107:p.Pro124Ser					WDR70_ENST00000504564.1_Missense_Mutation_p.P124S	p.P124S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	526	+	all_lung(31;0.000285)		124					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.370C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	8.415	0.845112	0.16963	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.87103	-0.3;-2.21	5.1	5.1	0.69264	.	0.448372	0.24182	N	0.040789	T	0.74291	0.3697	N	0.11560	0.145	0.38696	D	0.952887	B;B	0.16396	0.017;0.01	B;B	0.18561	0.022;0.008	T	0.69975	-0.4999	10	0.11182	T	0.66	-10.1453	14.3771	0.66886	0.0:1.0:0.0:0.0	.	124;124	D6RIW8;Q9NW82	.;WDR70_HUMAN	S	124	ENSP00000265107:P124S;ENSP00000425841:P124S	ENSP00000265107:P124S	P	+	1	0	WDR70	37432307	0.758000	0.28405	0.999000	0.59377	0.198000	0.23893	3.345000	0.52182	2.547000	0.85894	0.585000	0.79938	CCT		0.408	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		25	114	0	0	0	1	0	25	114				
NLRP8	126205	broad.mit.edu	37	19	56466164	56466164	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:56466164A>G	ENST00000291971.3	+	3	811	c.740A>G	c.(739-741)gAg>gGg	p.E247G	NLRP8_ENST00000590542.1_Missense_Mutation_p.E247G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATTGCCAAGAGGTGAACCAG	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(739-741)gAg>gGg		NLR family, pyrin domain containing 8							138.0	130.0	132.0					19																	56466164		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466164A>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.740A>G	19.37:g.56466164A>G	ENSP00000291971:p.Glu247Gly					NLRP8_ENST00000590542.1_Missense_Mutation_p.E247G	p.E247G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	811	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	247			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.740A>G	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028560	0.35797	.	.	ENSG00000179709	ENST00000291971	T	0.80214	-1.35	1.9	0.777	0.18538	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.85366	0.5680	M	0.75615	2.305	0.09310	N	1	P;D	0.59357	0.905;0.985	B;D	0.64595	0.291;0.927	T	0.72937	-0.4140	9	0.87932	D	0	.	4.613	0.12411	0.6604:0.3396:0.0:0.0	.	247;247	Q86W28-2;Q86W28	.;NALP8_HUMAN	G	247	ENSP00000291971:E247G	ENSP00000291971:E247G	E	+	2	0	NLRP8	61157976	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.339000	0.19875	0.161000	0.19458	0.334000	0.21626	GAG		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		24	111	0	0	0	1	0	24	111				
SMYD5	10322	broad.mit.edu	37	2	73453047	73453047	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:73453047G>C	ENST00000389501.4	+	13	1275	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	410	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAGATGCAGAGCTGGGGGATG	0.577																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1228-1230)gaG>gaC		SMYD family member 5							90.0	86.0	87.0					2																	73453047		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73453047G>C	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1230G>C	2.37:g.73453047G>C	ENSP00000374152:p.Glu410Asp						p.E410D	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1275	+			410			Glu-rich.		D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.1230G>C	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809148	0.50421	.	.	ENSG00000135632	ENST00000389501	T	0.51071	0.72	4.73	1.91	0.25777	.	0.062826	0.64402	D	0.000007	T	0.25531	0.0621	N	0.08118	0	0.39838	D	0.97307	B	0.14012	0.009	B	0.10450	0.005	T	0.05818	-1.0862	10	0.51188	T	0.08	-19.0216	9.2953	0.37811	0.243:0.0:0.757:0.0	.	410	Q6GMV2	SMYD5_HUMAN	D	410	ENSP00000374152:E410D	ENSP00000374152:E410D	E	+	3	2	SMYD5	73306555	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.255000	0.43222	0.309000	0.22966	-0.140000	0.14226	GAG		0.577	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		5	37	0	0	0	1	0	5	37				
NAV3	89795	broad.mit.edu	37	12	78511896	78511896	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511896C>A	ENST00000397909.2	+	14	3032	c.2859C>A	c.(2857-2859)agC>agA	p.S953R	NAV3_ENST00000536525.2_Missense_Mutation_p.S953R|NAV3_ENST00000228327.6_Missense_Mutation_p.S953R|NAV3_ENST00000266692.7_Missense_Mutation_p.S953R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTTTGACAGCCATGGGGATG	0.507										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2857-2859)agC>agA		neuron navigator 3							133.0	142.0	139.0					12																	78511896		1945	4148	6093	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78511896C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2859C>A	12.37:g.78511896C>A	ENSP00000381007:p.Ser953Arg	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S953R|NAV3_ENST00000228327.6_Missense_Mutation_p.S953R|NAV3_ENST00000266692.7_Missense_Mutation_p.S953R	p.S953R			Q8IVL0	NAV3_HUMAN			14	3032	+			953					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2859C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.609020|2.609020	0.46527|0.46527	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74	6.04|6.04	2.23|2.23	0.28157|0.28157	.|.	.|0.309580	.|0.22344	.|U	.|0.061288	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.34521|0.34521	1.04|1.04	0.19775|0.19775	N|N	0.999951|0.999951	.|B;B;B	.|0.24533	.|0.105;0.034;0.091	.|B;B;B	.|0.25884	.|0.028;0.007;0.064	T|T	0.35992|0.35992	-0.9766|-0.9766	5|10	.|0.87932	.|D	.|0	-7.1232|-7.1232	10.7712|10.7712	0.46323|0.46323	0.0:0.7456:0.0:0.2544|0.0:0.7456:0.0:0.2544	.|.	.|953;953;953	.|E7EUC6;Q8IVL0;Q8IVL0-2	.|.;NAV3_HUMAN;.	T|R	25|953	.|ENSP00000446132:S953R;ENSP00000381007:S953R;ENSP00000228327:S953R;ENSP00000266692:S953R	.|ENSP00000228327:S953R	P|S	+|+	1|3	0|2	NAV3|NAV3	77036027|77036027	0.113000|0.113000	0.22115|0.22115	0.807000|0.807000	0.32361|0.32361	0.993000|0.993000	0.82548|0.82548	0.096000|0.096000	0.15147|0.15147	0.459000|0.459000	0.27016|0.27016	0.563000|0.563000	0.77884|0.77884	CCA|AGC		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	96	1	0	1.67942e-08	1	1.75717e-08	18	96				
LRP1B	53353	broad.mit.edu	37	2	141643854	141643854	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:141643854T>C	ENST00000389484.3	-	24	4788	c.3817A>G	c.(3817-3819)Att>Gtt	p.I1273V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1273					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAAGATCAATCCTTCTGATC	0.308										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3817-3819)Att>Gtt		low density lipoprotein receptor-related protein 1B							75.0	76.0	76.0					2																	141643854		2203	4298	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643854T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3817A>G	2.37:g.141643854T>C	ENSP00000374135:p.Ile1273Val	TSP Lung(27;0.18)					p.I1273V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4788	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1273					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3817A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726463	0.48833	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91464	-2.85;-2.85	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	L	0.45422	1.42	0.58432	D	0.999996	P;D	0.59357	0.791;0.985	P;D	0.67548	0.463;0.952	D	0.88537	0.3107	10	0.07644	T	0.81	.	16.1167	0.81309	0.0:0.0:0.0:1.0	.	456;1273	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1273;1211;418	ENSP00000374135:I1273V;ENSP00000413239:I418V	ENSP00000374135:I1273V	I	-	1	0	LRP1B	141360324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.204000	0.70986	0.528000	0.53228	ATT		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	28	0	0	0	1	0	12	28				
AXDND1	126859	broad.mit.edu	37	1	179363159	179363159	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:179363159G>T	ENST00000367618.3	+	10	1372	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	AXDND1_ENST00000457238.2_Missense_Mutation_p.V329F|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	329										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTTCAAGCATGTTATTGAAGA	0.353																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(985-987)Gtt>Ttt		axonemal dynein light chain domain containing 1							127.0	128.0	128.0					1																	179363159		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179363159G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.985G>T	1.37:g.179363159G>T	ENSP00000356590:p.Val329Phe					AXDND1_ENST00000457238.2_Missense_Mutation_p.V329F|AXDND1_ENST00000461179.2_3'UTR	p.V329F	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			10	1372	+			329					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.985G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586851	0.66105	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.45276	2.21;0.9;2.22	5.33	5.33	0.75918	.	0.229124	0.40640	N	0.001045	T	0.54367	0.1854	L	0.44542	1.39	0.29586	N	0.848787	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.977;0.998;0.952	T	0.52997	-0.8500	10	0.49607	T	0.09	-14.1087	11.6167	0.51094	0.0:0.0:0.8224:0.1776	.	287;329;329	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	F	329;287;329;263	ENSP00000356590:V329F;ENSP00000416712:V329F;ENSP00000391716:V263F	ENSP00000353471:V287F	V	+	1	0	AXDND1	177629782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.389000	0.52516	2.494000	0.84150	0.643000	0.83706	GTT		0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		17	93	1	0	7.07596e-05	1	7.13914e-05	17	93				
ZAN	7455	broad.mit.edu	37	7	100365577	100365577	+	RNA	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:100365577C>T	ENST00000348028.3	+	0	5149				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)				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)			CGACGGGAGCCACTTGGTGGA	0.597																																						ENST00000542585.1																			0				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)							53.0	60.0	58.0					7																	100365577		2103	4208	6311			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365577C>T	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.100365577C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5132	+	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	17.49	3.401543	0.62288	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.46758	D	0.000273	T	0.73513	0.3596	M	0.76727	2.345	0.34766	D	0.733188	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78066	-0.2349	10	0.31617	T	0.26	.	13.9911	0.64367	0.0:1.0:0.0:0.0	.	1662;1662	F5H0T8;Q9Y493	.;ZAN_HUMAN	Y	1662;1662;1662;239	ENSP00000445943:H1662Y;ENSP00000445091:H1662Y;ENSP00000444427:H1662Y;ENSP00000441117:H239Y	ENSP00000423579:H1662Y	H	+	1	0	ZAN	100203513	0.994000	0.37717	0.988000	0.46212	0.320000	0.28249	3.251000	0.51453	2.586000	0.87340	0.655000	0.94253	CAC		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	20	0	0	0	1	0	7	20				
MCF2	4168	broad.mit.edu	37	X	138687061	138687061	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:138687061C>T	ENST00000370576.4	-	14	1849	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	MCF2_ENST00000414978.1_Missense_Mutation_p.G607E|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370573.4_Missense_Mutation_p.G547E|MCF2_ENST00000370578.4_Missense_Mutation_p.G692E|MCF2_ENST00000536274.1_Missense_Mutation_p.G508E|MCF2_ENST00000338585.6_Missense_Mutation_p.G563E|MCF2_ENST00000519895.1_Missense_Mutation_p.G623E|MCF2_ENST00000520602.1_Missense_Mutation_p.G607E	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	547	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGCCATGTTTCCAAAGAGAAT	0.318																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1819-1821)gGa>gAa		MCF.2 cell line derived transforming sequence							121.0	111.0	115.0					X																	138687061		2203	4298	6501	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138687061C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1640G>A	X.37:g.138687061C>T	ENSP00000359608:p.Gly547Glu					MCF2_ENST00000338585.6_Missense_Mutation_p.G563E|MCF2_ENST00000519895.1_Missense_Mutation_p.G623E|MCF2_ENST00000414978.1_Missense_Mutation_p.G607E|MCF2_ENST00000370573.4_Missense_Mutation_p.G547E|MCF2_ENST00000370576.4_Missense_Mutation_p.G547E|MCF2_ENST00000536274.1_Missense_Mutation_p.G508E|MCF2_ENST00000370578.4_Missense_Mutation_p.G692E	p.G607E			P10911	MCF2_HUMAN			17	2105	-	Acute lymphoblastic leukemia(192;0.000127)		547			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1820G>A	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.290395|3.290395	0.59976|0.59976	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90978|.	0.7163|.	H|H	0.98754|0.98754	4.32|4.32	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|.	0.94703|.	0.7885|.	10|.	0.87932|.	D|.	0|.	.|.	17.2486|17.2486	0.87035|0.87035	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	623;692;508;547;547;692;563;547|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	E|X	607;547;508;692;607;150;623;547;563|50	ENSP00000427745:G607E;ENSP00000359608:G547E;ENSP00000438155:G508E;ENSP00000359610:G692E;ENSP00000397055:G607E;ENSP00000405848:G150E;ENSP00000430276:G623E;ENSP00000359605:G547E;ENSP00000342204:G563E|.	ENSP00000342204:G563E|.	G|W	-|-	2|3	0|0	MCF2|MCF2	138514727|138514727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.196000|0.196000	0.23810|0.23810	7.386000|7.386000	0.79775|0.79775	2.286000|2.286000	0.76751|0.76751	0.544000|0.544000	0.68410|0.68410	GGA|TGG		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		45	53	0	0	0	1	0	45	53				
OR4D9	390199	broad.mit.edu	37	11	59282758	59282758	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59282758G>A	ENST00000329328.3	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCGCTATATAGCCATCTCCAA	0.537																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(373-375)Gcc>Acc		olfactory receptor, family 4, subfamily D, member 9							81.0	78.0	79.0					11																	59282758		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282758G>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.373G>A	11.37:g.59282758G>A	ENSP00000328563:p.Ala125Thr						p.A125T	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	373	+			125					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.373G>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376301	0.42105	.	.	ENSG00000172742	ENST00000329328	T	0.00912	5.55	4.16	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.173798	0.27084	U	0.021015	T	0.07773	0.0195	H	0.94582	3.555	0.26471	N	0.975287	D	0.89917	1.0	D	0.97110	1.0	T	0.04509	-1.0946	10	0.87932	D	0	-11.462	10.8474	0.46751	0.0959:0.0:0.9041:0.0	.	125	Q8NGE8	OR4D9_HUMAN	T	125	ENSP00000328563:A125T	ENSP00000328563:A125T	A	+	1	0	OR4D9	59039334	1.000000	0.71417	0.601000	0.28877	0.013000	0.08279	5.380000	0.66202	0.850000	0.35239	-0.251000	0.11542	GCC		0.537	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		13	90	0	0	0	1	0	13	90				
FAM13A	10144	broad.mit.edu	37	4	89702359	89702359	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:89702359C>A	ENST00000264344.5	-	11	1622	c.1415G>T	c.(1414-1416)aGt>aTt	p.S472I	FAM13A_ENST00000513837.1_Missense_Mutation_p.S118I|FAM13A_ENST00000395002.2_Missense_Mutation_p.S146I|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.S132I|FAM13A_ENST00000508369.1_Missense_Mutation_p.S146I|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	472					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGTTTAGTACTGGATTTCTG	0.358																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1414-1416)aGt>aTt		family with sequence similarity 13, member A							129.0	118.0	121.0					4																	89702359		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702359C>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1415G>T	4.37:g.89702359C>A	ENSP00000264344:p.Ser472Ile					FAM13A_ENST00000508369.1_Missense_Mutation_p.S146I|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_Missense_Mutation_p.S132I|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000513837.1_Missense_Mutation_p.S118I|FAM13A_ENST00000395002.2_Missense_Mutation_p.S146I	p.S472I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			11	1622	-			472					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1415G>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953188	0.73902	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	T;T;T;T;T	0.63744	-0.06;-0.06;1.34;-0.06;1.35	5.23	4.39	0.52855	.	0.086702	0.85682	D	0.000000	T	0.69646	0.3134	L	0.59436	1.845	0.80722	D	1	D;D;B;D;P	0.60575	0.963;0.988;0.429;0.98;0.881	P;P;B;P;P	0.56398	0.668;0.797;0.2;0.668;0.68	T	0.69262	-0.5191	10	0.35671	T	0.21	.	14.1398	0.65313	0.0:0.9279:0.0:0.0721	.	118;472;146;132;146	O94988-6;O94988;O94988-3;O94988-5;O94988-1	.;FA13A_HUMAN;.;.;.	I	146;472;132;146;118	ENSP00000378450:S146I;ENSP00000264344:S472I;ENSP00000427189:S132I;ENSP00000421562:S146I;ENSP00000423252:S118I	ENSP00000264344:S472I	S	-	2	0	FAM13A	89921382	1.000000	0.71417	0.867000	0.34043	0.934000	0.57294	2.722000	0.47269	1.439000	0.47511	-0.143000	0.13931	AGT		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			13	89	1	0	1.41608e-15	1	1.55356e-15	13	89				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	13	0	0	0	1	0	5	13				
LMO7	4008	broad.mit.edu	37	13	76382245	76382245	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:76382245C>G	ENST00000321797.8	+	8	1848	c.1127C>G	c.(1126-1128)cCt>cGt	p.P376R	LMO7_ENST00000465261.2_Missense_Mutation_p.P376R|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.P661R|LMO7_ENST00000377534.3_Missense_Mutation_p.P661R|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	661					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTTTCACCCCTGGCCCCTGC	0.522																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1981-1983)cCt>cGt		LIM domain 7							59.0	56.0	57.0					13																	76382245		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76382245C>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1127C>G	13.37:g.76382245C>G	ENSP00000317802:p.Pro376Arg					LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P376R|LMO7_ENST00000377534.3_Missense_Mutation_p.P661R|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.P376R	p.P661R			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	11	3242	+		Breast(118;0.0992)	661					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1982C>G		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909953	0.72983	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.97	5.97	0.96955	.	0.122017	0.53938	D	0.000043	T	0.71592	0.3358	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72437	-0.4294	10	0.87932	D	0	-18.4068	20.4388	0.99107	0.0:1.0:0.0:0.0	.	661;376	Q8WWI1;E9PLH4	LMO7_HUMAN;.	R	661;661;376;376	ENSP00000349571:P661R;ENSP00000366757:P661R;ENSP00000317802:P376R;ENSP00000433352:P376R	ENSP00000317802:P376R	P	+	2	0	LMO7	75280246	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	5.761000	0.68801	2.836000	0.97738	0.655000	0.94253	CCT		0.522	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		10	23	0	0	0	1	0	10	23				
ZNF254	9534	broad.mit.edu	37	19	24310424	24310424	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:24310424C>T	ENST00000357002.4	+	4	1737	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T456I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	541					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAATTCATACTGAAGAGAAA	0.358																																						ENST00000357002.4																			0											c.(1621-1623)aCt>aTt		zinc finger protein 254							37.0	40.0	39.0					19																	24310424		2182	4290	6472	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310424C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1622C>T	19.37:g.24310424C>T	ENSP00000349494:p.Thr541Ile					ZNF254_ENST00000342944.6_Missense_Mutation_p.T456I	p.T541I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1737	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	541					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1622C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408485	0.25378	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.25749	1.78;1.78	1.11	-2.21	0.06973	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	L	0.46157	1.445	0.24859	N	0.992359	P	0.48998	0.918	P	0.52109	0.69	T	0.24333	-1.0163	9	0.87932	D	0	.	6.8473	0.23994	0.0:0.5775:0.4225:0.0	.	541	O75437	ZN254_HUMAN	I	456;541	ENSP00000445527:T456I;ENSP00000349494:T541I	ENSP00000445527:T456I	T	+	2	0	ZNF254	24102264	0.806000	0.28996	0.120000	0.21714	0.622000	0.37654	1.386000	0.34419	-0.454000	0.07066	0.305000	0.20034	ACT		0.358	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		13	55	0	0	0	1	0	13	55				
CYP39A1	51302	broad.mit.edu	37	6	46604171	46604171	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:46604171G>T	ENST00000275016.2	-	5	890	c.687C>A	c.(685-687)aaC>aaA	p.N229K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	229					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TATCTGGAATGTTTTTCTCAA	0.274																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(685-687)aaC>aaA		cytochrome P450, family 39, subfamily A, polypeptide 1							50.0	51.0	51.0					6																	46604171		2202	4293	6495	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46604171G>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.687C>A	6.37:g.46604171G>T	ENSP00000275016:p.Asn229Lys						p.N229K	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			5	890	-			229					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.687C>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	3.960	-0.010579	0.07727	.	.	ENSG00000146233	ENST00000275016	T	0.66280	-0.2	6.04	0.147	0.14838	.	0.551761	0.20395	N	0.093171	T	0.20941	0.0504	L	0.54323	1.7	0.09310	N	1	B;B	0.18968	0.032;0.019	B;B	0.23852	0.035;0.049	T	0.27191	-1.0081	10	0.06236	T	0.91	-8.7749	1.8433	0.03154	0.3438:0.125:0.4032:0.128	.	209;229	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	229	ENSP00000275016:N229K	ENSP00000275016:N229K	N	-	3	2	CYP39A1	46712130	0.000000	0.05858	0.039000	0.18376	0.522000	0.34438	-0.538000	0.06120	0.004000	0.14682	0.561000	0.74099	AAC		0.274	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			35	134	1	0	6.70999e-13	1	7.1531e-13	35	134				
LGR5	8549	broad.mit.edu	37	12	71978308	71978308	+	Missense_Mutation	SNP	G	G	A	rs531281851		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:71978308G>A	ENST00000266674.5	+	18	2829	c.2518G>A	c.(2518-2520)Gtc>Atc	p.V840I	LGR5_ENST00000540815.2_Missense_Mutation_p.V816I|LGR5_ENST00000536515.1_Missense_Mutation_p.V768I|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	840					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCAAACCTACGTCTGGACAAG	0.453													T|||	1	0.000199681	0.0	0.0	5008	,	,		20759	0.001		0.0	False		,,,				2504	0.0					ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2518-2520)Gtc>Atc		leucine-rich repeat containing G protein-coupled receptor 5							126.0	121.0	122.0					12																	71978308		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978308G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2518G>A	12.37:g.71978308G>A	ENSP00000266674:p.Val840Ile					LGR5_ENST00000536515.1_Missense_Mutation_p.V768I|LGR5_ENST00000540815.2_Missense_Mutation_p.V816I	p.V840I			O75473	LGR5_HUMAN			18	2829	+			840					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2518G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	T	8.906	0.957642	0.18507	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.36878	1.23;1.23;1.23	5.79	-0.715	0.11215	.	0.780793	0.12150	N	0.495017	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23904	-1.0175	10	0.16896	T	0.51	.	0.9789	0.01432	0.1973:0.2976:0.2032:0.3019	.	816;840	O75473-2;O75473	.;LGR5_HUMAN	I	840;768;816	ENSP00000266674:V840I;ENSP00000443033:V768I;ENSP00000441035:V816I	ENSP00000266674:V840I	V	+	1	0	LGR5	70264575	0.000000	0.05858	0.006000	0.13384	0.273000	0.26683	-0.249000	0.08842	-0.688000	0.05155	-1.248000	0.01517	GTC		0.453	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		9	32	0	0	0	1	0	9	32				
WDR17	116966	broad.mit.edu	37	4	177052705	177052705	+	Splice_Site	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:177052705T>C	ENST00000280190.4	+	8	1142	c.986T>C	c.(985-987)tTt>tCt	p.F329S	WDR17_ENST00000393643.2_Splice_Site_p.F305S|WDR17_ENST00000508596.1_Splice_Site_p.F305S|WDR17_ENST00000507824.2_Splice_Site_p.F312S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	329										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATTTTTAGTTTCAGTCCAA	0.333																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.e7-1		WD repeat domain 17							109.0	109.0	109.0					4																	177052705		2203	4300	6503	SO:0001630	splice_region_variant	116966							g.chr4:177052705T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.986-1T>C	4.37:g.177052705T>C						WDR17_ENST00000508596.1_Splice_Site_p.F305_splice|WDR17_ENST00000280190.4_Splice_Site_p.F329_splice|WDR17_ENST00000507824.2_Splice_Site_p.F312_splice	p.F305_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1166	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	329					E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	c.913_splice	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.578|8.578	0.881534|0.881534	0.17467|0.17467	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.57436	.|0.44;0.46;0.4	5.44|5.44	5.44|5.44	0.79542|0.79542	.|WD40 repeat-like-containing domain (1);	0.129115|0.129115	0.56097|0.56097	D|D	0.000034|0.000034	T|T	0.31358|0.31358	0.0794|0.0794	N|N	0.14661|0.14661	0.345|0.345	0.46396|0.46396	D|D	0.999029|0.999029	.|P;P	.|0.37914	.|0.611;0.611	.|B;B	.|0.30646	.|0.118;0.118	T|T	0.16867|0.16867	-1.0388|-1.0388	6|9	.|.	.|.	.|.	.|.	12.6794|12.6794	0.56914|0.56914	0.0:0.0:0.2088:0.7912|0.0:0.0:0.2088:0.7912	.|.	.|305;329	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	L|S	78|305;305;329;312	.|ENSP00000422763:F305S;ENSP00000377258:F305S;ENSP00000280190:F329S	.|.	F|F	+|+	1|2	0|0	WDR17|WDR17	177289699|177289699	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.823000|0.823000	0.46562|0.46562	2.256000|2.256000	0.43231|0.43231	2.196000|2.196000	0.70406|0.70406	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	15	61	0	0	0	1	0	15	61				
SLC12A7	10723	broad.mit.edu	37	5	1057650	1057650	+	Missense_Mutation	SNP	C	C	T	rs374026955		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:1057650C>T	ENST00000264930.5	-	22	3005	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	988					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TACTTCTCAGCGATCAGCTTC	0.612																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2962-2964)Gct>Act		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	C	THR/ALA	0,4406		0,0,2203	182.0	153.0	163.0		2962	1.5	0.0	5		163	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC12A7	NM_006598.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	988/1084	1057650	2,13004	2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057650C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2962G>A	5.37:g.1057650C>T	ENSP00000264930:p.Ala988Thr						p.A988T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	3005	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		988					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2962G>A	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.657|3.657	-0.070375|-0.070375	0.07228|0.07228	0.0|0.0	2.33E-4|2.33E-4	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.87029|.	-2.2|.	3.39|3.39	1.48|1.48	0.22813|0.22813	.|.	0.875336|.	0.09709|.	N|.	0.765923|.	T|T	0.35068|0.35068	0.0919|0.0919	L|L	0.39020|0.39020	1.185|1.185	0.09310|0.09310	N|N	1|1	B|.	0.22080|.	0.064|.	B|.	0.14578|.	0.011|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|5	0.13470|.	T|.	0.59|.	.|.	8.6814|8.6814	0.34212|0.34212	0.0:0.7893:0.0:0.2107|0.0:0.7893:0.0:0.2107	.|.	988|.	Q9Y666|.	S12A7_HUMAN|.	T|H	988|345	ENSP00000264930:A988T|.	ENSP00000264930:A988T|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1110650|1110650	0.011000|0.011000	0.17503|0.17503	0.006000|0.006000	0.13384|0.13384	0.090000|0.090000	0.18270|0.18270	1.324000|1.324000	0.33712|0.33712	0.548000|0.548000	0.28955|0.28955	0.491000|0.491000	0.48974|0.48974	GCT|CGC		0.612	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		50	189	0	0	0	1	0	50	189				
PCSK1	5122	broad.mit.edu	37	5	95728768	95728768	+	Silent	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:95728768A>T	ENST00000311106.3	-	14	2436	c.2199T>A	c.(2197-2199)ccT>ccA	p.P733P	PCSK1_ENST00000508626.1_Silent_p.P686P|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	733					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTGCTTGTAAGGTTTAGTGT	0.403																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2197-2199)ccT>ccA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						154.0	159.0	157.0					5																	95728768		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728768A>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2199T>A	5.37:g.95728768A>T						PCSK1_ENST00000508626.1_Silent_p.P686P|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	p.P733P	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2436	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	733					B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.2199T>A	CCDS4081.1																																																																																				0.403	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	165	0	0	0	1	0	4	165				
OSBP	5007	broad.mit.edu	37	11	59376073	59376073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59376073G>A	ENST00000263847.1	-	3	1185	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	236					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGAGAACGCTGCAGAGCTGTG	0.493																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(706-708)Cag>Tag		oxysterol binding protein							142.0	120.0	127.0					11																	59376073		2201	4295	6496	SO:0001587	stop_gained	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376073G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.706C>T	11.37:g.59376073G>A	ENSP00000263847:p.Gln236*						p.Q236*	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1185	-		all_epithelial(135;0.000236)	236					Q6P524	Nonsense_Mutation	SNP	ENST00000263847.1	37	c.706C>T	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	42	9.722688	0.99248	.	.	ENSG00000110048	ENST00000263847	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-22.3315	19.8467	0.96710	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000263847:Q236X	Q	-	1	0	OSBP	59132649	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.976000	0.88070	2.789000	0.95967	0.655000	0.94253	CAG		0.493	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			10	90	0	0	0	1	0	10	90				
ZNF836	162962	broad.mit.edu	37	19	52659617	52659617	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:52659617T>A	ENST00000322146.8	-	5	1840	c.1319A>T	c.(1318-1320)aAa>aTa	p.K440I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.K440I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	440					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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTATATGGTTTCTCTCCTGT	0.418																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1318-1320)aAa>aTa		zinc finger protein 836							191.0	199.0	196.0					19																	52659617		2201	4300	6501	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659617T>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1319A>T	19.37:g.52659617T>A	ENSP00000325038:p.Lys440Ile					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.K440I	p.K440I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	1840	-			440						Missense_Mutation	SNP	ENST00000322146.8	37	c.1319A>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975603	0.34848	.	.	ENSG00000196267	ENST00000322146	T	0.27720	1.65	1.92	1.92	0.25849	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50051	0.1593	M	0.66297	2.02	0.23862	N	0.996635	D	0.54964	0.969	D	0.85130	0.997	T	0.23368	-1.0190	9	0.87932	D	0	.	8.5914	0.33690	0.0:0.0:0.0:1.0	.	440	Q6ZNA1	ZN836_HUMAN	I	440	ENSP00000325038:K440I	ENSP00000325038:K440I	K	-	2	0	ZNF836	57351429	0.008000	0.16893	0.013000	0.15412	0.136000	0.21042	0.305000	0.19254	0.875000	0.35847	0.254000	0.18369	AAA		0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		48	132	0	0	0	1	0	48	132				
COL22A1	169044	broad.mit.edu	37	8	139626118	139626118	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:139626118C>T	ENST00000303045.6	-	56	4416	c.3970G>A	c.(3970-3972)Ggc>Agc	p.G1324S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1304S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1324	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGTGGGCCCCTTGGTCCT	0.493										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3970-3972)Ggc>Agc		collagen, type XXII, alpha 1							129.0	136.0	134.0					8																	139626118		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139626118C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3970G>A	8.37:g.139626118C>T	ENSP00000303153:p.Gly1324Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1304S|COL22A1_ENST00000341807.4_5'UTR	p.G1324S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		56	4416	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1324			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3970G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614611	0.66672	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99607	-6.27;-6.27	4.75	4.75	0.60458	.	0.000000	0.50627	D	0.000106	D	0.99771	0.9906	H	0.98178	4.165	0.48696	D	0.999694	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97067	0.9775	10	0.87932	D	0	.	13.1056	0.59246	0.0:1.0:0.0:0.0	.	1304;1324	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1324;1304;1017	ENSP00000303153:G1324S;ENSP00000387655:G1304S	ENSP00000303153:G1324S	G	-	1	0	COL22A1	139695300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.567000	0.53813	2.446000	0.82766	0.555000	0.69702	GGC		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		33	119	0	0	0	1	0	33	119				
NUP188	23511	broad.mit.edu	37	9	131757647	131757647	+	Missense_Mutation	SNP	G	G	A	rs373808238		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:131757647G>A	ENST00000372577.2	+	30	3226	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1069					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATTTTCCATCGAGAAACGCTT	0.443																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3205-3207)Gag>Aag		nucleoporin 188kDa		G	LYS/GLU	0,4406		0,0,2203	137.0	129.0	132.0		3205	5.8	1.0	9		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP188	NM_015354.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1069/1750	131757647	1,13005	2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131757647G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3205G>A	9.37:g.131757647G>A	ENSP00000361658:p.Glu1069Lys						p.E1069K	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			30	3226	+			1069					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3205G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451261	0.26074	0.0	1.16E-4	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.66099	-0.19	5.81	5.81	0.92471	.	0.155094	0.56097	D	0.000025	T	0.40619	0.1124	N	0.10733	0.035	0.42084	D	0.991262	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.31724	-0.9933	10	0.23302	T	0.38	-8.8286	12.3137	0.54944	0.085:0.0:0.915:0.0	.	402;1069	E9PET9;Q5SRE5	.;NU188_HUMAN	K	958;1069	ENSP00000361658:E1069K	ENSP00000349125:E958K	E	+	1	0	NUP188	130797468	1.000000	0.71417	0.973000	0.42090	0.693000	0.40251	4.870000	0.63035	2.746000	0.94184	0.655000	0.94253	GAG		0.443	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			37	136	0	0	0	1	0	37	136				
LHCGR	3973	broad.mit.edu	37	2	48914852	48914852	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:48914852C>T	ENST00000294954.7	-	11	2105	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	LHCGR_ENST00000405626.1_Missense_Mutation_p.R668H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R633H|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	695					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTCTGTGTAGCGAGTCTTGTC	0.373																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(2083-2085)cGc>cAc		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						105.0	99.0	101.0					2																	48914852		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914852C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.2084G>A	2.37:g.48914852C>T	ENSP00000294954:p.Arg695His					LHCGR_ENST00000405626.1_Missense_Mutation_p.R668H|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R633H	p.R695H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2105	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	695					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.2084G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	1.226	-0.625393	0.03610	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76186	-1.0;-0.83;-0.9	4.7	3.83	0.44106	.	0.624908	0.16416	N	0.215363	T	0.51839	0.1698	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	9	.	.	.	.	4.9146	0.13840	0.0:0.6373:0.176:0.1868	.	695	P22888	LSHR_HUMAN	H	633;695;668	ENSP00000344301:R633H;ENSP00000294954:R695H;ENSP00000386033:R668H	.	R	-	2	0	LHCGR	48768356	0.000000	0.05858	0.194000	0.23346	0.202000	0.24057	0.301000	0.19174	1.192000	0.43071	0.585000	0.79938	CGC		0.373	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		18	65	0	0	0	1	0	18	65				
METTL14	57721	broad.mit.edu	37	4	119631185	119631185	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:119631185A>G	ENST00000388822.5	+	11	1266	c.1099A>G	c.(1099-1101)Agc>Ggc	p.S367G	METTL14_ENST00000506780.1_Missense_Mutation_p.S329G			Q9HCE5	MET14_HUMAN	methyltransferase like 14	367					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCTTACAAATAGCAACTACAA	0.368																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1099-1101)Agc>Ggc		methyltransferase like 14							117.0	119.0	118.0					4																	119631185		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631185A>G	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1099A>G	4.37:g.119631185A>G	ENSP00000373474:p.Ser367Gly					METTL14_ENST00000506780.1_Missense_Mutation_p.S329G	p.S367G			Q9HCE5	MTL14_HUMAN			11	1266	+			367					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.1099A>G	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801987	0.90538	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	5.62	0.85841	.	0.037464	0.85682	D	0.000000	T	0.77738	0.4175	M	0.80028	2.48	0.80722	D	1	D;D	0.64830	0.994;0.968	P;P	0.59357	0.856;0.823	T	0.81167	-0.1056	9	0.66056	D	0.02	-7.2661	15.8538	0.78960	1.0:0.0:0.0:0.0	.	329;367	D6RBL4;Q9HCE5	.;MTL14_HUMAN	G	367;329	.	ENSP00000373474:S367G	S	+	1	0	METTL14	119850633	1.000000	0.71417	0.960000	0.40013	0.951000	0.60555	8.948000	0.93006	2.141000	0.66446	0.528000	0.53228	AGC		0.368	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		25	99	0	0	0	1	0	25	99				
IL2	3558	broad.mit.edu	37	4	123372933	123372933	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:123372933G>C	ENST00000226730.4	-	4	720	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	146					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	ATGATGCTTTGACAAAAGGTA	0.299			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(436-438)Caa>Gaa		interleukin 2							87.0	82.0	84.0					4																	123372933		2202	4300	6502	SO:0001583	missense	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123372933G>C	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.436C>G	4.37:g.123372933G>C	ENSP00000226730:p.Gln146Glu						p.Q146E	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	4	720	-			146					P01585	Missense_Mutation	SNP	ENST00000226730.4	37	c.436C>G	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910242	0.72983	.	.	ENSG00000109471	ENST00000226730	.	.	.	5.15	5.15	0.70609	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.47852	D	0.000216	T	0.78648	0.4316	M	0.77486	2.375	0.39577	D	0.969375	D	0.60160	0.987	D	0.72075	0.976	T	0.82192	-0.0579	9	0.87932	D	0	-12.1938	14.4703	0.67512	0.0:0.0:1.0:0.0	.	146	P60568	IL2_HUMAN	E	146	.	ENSP00000226730:Q146E	Q	-	1	0	IL2	123592383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.698000	0.61789	2.559000	0.86315	0.650000	0.86243	CAA		0.299	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			4	29	0	0	0	1	0	4	29				
ACTRT1	139741	broad.mit.edu	37	X	127186185	127186185	+	Start_Codon_SNP	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:127186185T>A	ENST00000371124.3	-	1	197	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	1						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGATTAAACATGTCTGTAATA	0.428																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(1-3)Atg>Ttg		actin-related protein T1							54.0	50.0	51.0					X																	127186185		2203	4297	6500	SO:0001582	initiator_codon_variant	139741					cytoplasm|cytoskeleton		g.chrX:127186185T>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1A>T	X.37:g.127186185T>A	ENSP00000360165:p.Met1Leu						p.M1L	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	197	-			1					Q6X7C1|Q96L10	Translation_Start_Site	SNP	ENST00000371124.3	37	c.1A>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455361	0.63401	.	.	ENSG00000123165	ENST00000371124	D	0.94330	-3.4	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	.	.	.	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	D	0.95124	0.8249	9	0.87932	D	0	.	8.0246	0.30430	0.0:0.0:0.0:1.0	.	1	Q8TDG2	ACTT1_HUMAN	L	1	ENSP00000360165:M1L	ENSP00000360165:M1L	M	-	1	0	ACTRT1	127013866	0.989000	0.36119	0.675000	0.29917	0.573000	0.36030	2.044000	0.41241	1.710000	0.51325	0.441000	0.28932	ATG		0.428	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	Missense_Mutation	21	23	0	0	0	1	0	21	23				
PIWIL1	9271	broad.mit.edu	37	12	130833938	130833938	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:130833938G>C	ENST00000245255.3	+	8	1161	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	297	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAATTTCAAGAACAAGTTTC	0.343																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(889-891)Gaa>Caa		piwi-like RNA-mediated gene silencing 1							68.0	65.0	66.0					12																	130833938		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130833938G>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.889G>C	12.37:g.130833938G>C	ENSP00000245255:p.Glu297Gln						p.E297Q	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	8	1161	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.889G>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028135	0.75390	.	.	ENSG00000125207	ENST00000245255	T	0.14766	2.48	5.85	5.85	0.93711	Argonaute/Dicer protein, PAZ (4);	0.183165	0.64402	D	0.000019	T	0.20981	0.0505	L	0.53729	1.69	0.80722	D	1	B;B	0.30727	0.292;0.128	B;B	0.37451	0.25;0.164	T	0.01670	-1.1299	10	0.29301	T	0.29	-27.6999	19.1531	0.93496	0.0:0.0:1.0:0.0	.	297;297	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	297	ENSP00000245255:E297Q	ENSP00000245255:E297Q	E	+	1	0	PIWIL1	129399891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.896000	0.87350	2.753000	0.94483	0.655000	0.94253	GAA		0.343	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			4	36	0	0	0	1	0	4	36				
CSE1L	1434	broad.mit.edu	37	20	47682985	47682985	+	Silent	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:47682985T>C	ENST00000262982.2	+	5	537	c.414T>C	c.(412-414)ttT>ttC	p.F138F	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Silent_p.F138F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	138					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGAATCGCTTTCAGAGTGGAG	0.358																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(412-414)ttT>ttC		CSE1 chromosome segregation 1-like (yeast)							122.0	117.0	119.0					20																	47682985		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47682985T>C	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.414T>C	20.37:g.47682985T>C						CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Silent_p.F138F	p.F138F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		5	537	+			138					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.414T>C	CCDS13412.1																																																																																				0.358	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		11	83	0	0	0	1	0	11	83				
IGSF11	152404	broad.mit.edu	37	3	118621791	118621791	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:118621791G>A	ENST00000393775.2	-	7	1177	c.872C>T	c.(871-873)cCc>cTc	p.P291L	IGSF11_ENST00000425327.2_Missense_Mutation_p.P290L|IGSF11_ENST00000354673.2_Missense_Mutation_p.P290L|IGSF11_ENST00000441144.2_Missense_Mutation_p.P266L|IGSF11_ENST00000489689.1_Missense_Mutation_p.P267L|IGSF11_ENST00000491903.1_Missense_Mutation_p.P263L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	291					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAACACTTGGGTGGAAGATC	0.418																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(868-870)cCc>cTc		immunoglobulin superfamily, member 11							86.0	90.0	89.0					3																	118621791		2181	4294	6475	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621791G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.872C>T	3.37:g.118621791G>A	ENSP00000377370:p.Pro291Leu					IGSF11_ENST00000489689.1_Missense_Mutation_p.P267L|IGSF11_ENST00000441144.2_Missense_Mutation_p.P266L|IGSF11_ENST00000491903.1_Missense_Mutation_p.P263L|IGSF11_ENST00000393775.2_Missense_Mutation_p.P291L|IGSF11_ENST00000425327.2_Missense_Mutation_p.P290L	p.P290L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1249	-			291					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.869C>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511590	0.85389	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;D;D;T;D;D	0.96041	-1.46;-1.68;-3.85;-1.46;-3.89;-2.62	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.997;0.997	D	0.96946	0.9691	10	0.59425	D	0.04	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	263;266;290;267;291	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	290;291;267;290;266;263	ENSP00000406092:P290L;ENSP00000377370:P291L;ENSP00000420486:P267L;ENSP00000346700:P290L;ENSP00000401240:P266L;ENSP00000417413:P263L	ENSP00000346700:P290L	P	-	2	0	IGSF11	120104481	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	CCC		0.418	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			13	57	0	0	0	1	0	13	57				
ABLIM3	22885	broad.mit.edu	37	5	148627423	148627423	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:148627423C>T	ENST00000506113.1	+	17	2112	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	ABLIM3_ENST00000508983.1_Missense_Mutation_p.P511S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.P30S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.P433S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.P433S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P544S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.P449S|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	544					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGGACCCCTCCCCGGAG	0.607																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1630-1632)Cct>Tct		actin binding LIM protein family, member 3							33.0	36.0	35.0					5																	148627423		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627423C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1630C>T	5.37:g.148627423C>T	ENSP00000425394:p.Pro544Ser					RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.P433S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.P449S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.P30S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.P433S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P544S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.P511S	p.P544S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2112	+			544					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1630C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535053	0.27475	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.62	5.62	0.85841	.	0.133510	0.52532	D	0.000074	T	0.39517	0.1081	N	0.04746	-0.17	0.36737	D	0.882045	B;D;D;B	0.76494	0.006;0.999;0.998;0.004	B;D;D;B	0.81914	0.005;0.995;0.994;0.003	T	0.46247	-0.9205	10	0.17832	T	0.49	.	19.6415	0.95760	0.0:1.0:0.0:0.0	.	30;449;433;544	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	449;433;544;544;433;511;30;29	ENSP00000315841:P449S;ENSP00000348938:P433S;ENSP00000310309:P544S;ENSP00000425394:P544S;ENSP00000421183:P433S;ENSP00000420855:P511S;ENSP00000430150:P30S	ENSP00000310309:P544S	P	+	1	0	ABLIM3	148607616	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.124000	0.64709	2.651000	0.90000	0.561000	0.74099	CCT		0.607	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		13	39	0	0	0	1	0	13	39				
AHNAK	79026	broad.mit.edu	37	11	62288732	62288732	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:62288732G>A	ENST00000378024.4	-	5	13431	c.13157C>T	c.(13156-13158)tCc>tTc	p.S4386F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4386					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGGCATGGAGATTTTGGG	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13156-13158)tCc>tTc		AHNAK nucleoprotein							149.0	157.0	155.0					11																	62288732		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288732G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13157C>T	11.37:g.62288732G>A	ENSP00000367263:p.Ser4386Phe					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S4386F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13431	-		Melanoma(852;0.155)	4386					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13157C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338264	0.41398	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.84	4.84	0.62591	.	0.143577	0.49305	D	0.000156	T	0.37046	0.0989	H	0.95294	3.65	0.47153	D	0.999331	D	0.76494	0.999	D	0.83275	0.996	T	0.54166	-0.8334	10	0.62326	D	0.03	.	16.1111	0.81263	0.0:0.0:1.0:0.0	.	4386	Q09666	AHNK_HUMAN	F	4386	ENSP00000367263:S4386F	ENSP00000367263:S4386F	S	-	2	0	AHNAK	62045308	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	6.053000	0.71089	2.381000	0.81170	0.551000	0.68910	TCC		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		44	238	0	0	0	1	0	44	238				
C2CD5	9847	broad.mit.edu	37	12	22610002	22610002	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:22610002T>C	ENST00000333957.4	-	23	2882	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	C2CD5_ENST00000536386.1_Missense_Mutation_p.K929R|C2CD5_ENST00000446597.1_Missense_Mutation_p.K927R|C2CD5_ENST00000542676.1_Missense_Mutation_p.K927R|C2CD5_ENST00000544930.1_Missense_Mutation_p.K732R|C2CD5_ENST00000545552.1_Missense_Mutation_p.K930R|C2CD5_ENST00000396028.2_Missense_Mutation_p.K918R	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	876					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)										AGGTGTCATCTTAACAACCCC	0.393																																						ENST00000333957.4																			0											c.(2626-2628)aAg>aGg		C2 calcium-dependent domain containing 5							90.0	84.0	86.0					12																	22610002		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22610002T>C	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.2627A>G	12.37:g.22610002T>C	ENSP00000334229:p.Lys876Arg					C2CD5_ENST00000545552.1_Missense_Mutation_p.K930R|C2CD5_ENST00000396028.2_Missense_Mutation_p.K918R|C2CD5_ENST00000536386.1_Missense_Mutation_p.K929R|C2CD5_ENST00000544930.1_Missense_Mutation_p.K732R|C2CD5_ENST00000542676.1_Missense_Mutation_p.K927R|C2CD5_ENST00000446597.1_Missense_Mutation_p.K927R	p.K876R	NM_014802.1	NP_055617.1					23	2882	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2627A>G	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.968172|3.968172	0.74131|0.74131	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.64991|.	-0.12;-0.11;-0.12;-0.12;-0.11;-0.13|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.36672|0.36672	1.1|1.1	0.49299|0.49299	D|D	0.999773|0.999773	D;D;D;D;P|.	0.76494|.	0.983;0.983;0.997;0.999;0.956|.	P;P;D;D;B|.	0.83275|.	0.857;0.72;0.99;0.996;0.444|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|5	0.56958|.	D|.	0.05|.	-18.4095|-18.4095	14.8038|14.8038	0.69935|0.69935	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	929;927;732;918;876|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	R|G	876;927;929;918;927;930;732|177	ENSP00000334229:K876R;ENSP00000388756:K927R;ENSP00000439392:K929R;ENSP00000379345:K918R;ENSP00000441951:K927R;ENSP00000443204:K930R|.	ENSP00000334229:K876R|.	K|R	-|-	2|1	0|2	KIAA0528|KIAA0528	22501269|22501269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.604000|5.604000	0.67626|0.67626	2.067000|2.067000	0.61834|0.61834	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.393	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		19	71	0	0	0	1	0	19	71				
MAP7D1	55700	broad.mit.edu	37	1	36636622	36636622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:36636622C>T	ENST00000373151.2	+	2	313	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MAP7D1_ENST00000316156.4_Missense_Mutation_p.P33S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P33S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	33	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGAAGGTGACCCTTCCCCCCC	0.602																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(97-99)Cct>Tct		MAP7 domain containing 1							57.0	61.0	60.0					1																	36636622		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36636622C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.97C>T	1.37:g.36636622C>T	ENSP00000362244:p.Pro33Ser					MAP7D1_ENST00000373151.2_Missense_Mutation_p.P33S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P33S	p.P33S			Q3KQU3	MA7D1_HUMAN			2	550	+		Myeloproliferative disorder(586;0.0393)	33			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.97C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975962	0.74360	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151	T;T;T	0.04551	3.6;3.6;3.6	4.87	4.87	0.63330	.	0.000000	0.41500	D	0.000866	T	0.12263	0.0298	L	0.40543	1.245	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.994	P;P;P	0.62298	0.9;0.9;0.796	T	0.03608	-1.1020	10	0.35671	T	0.21	-13.2015	15.218	0.73285	0.0:1.0:0.0:0.0	.	33;33;33	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	S	33	ENSP00000320228:P33S;ENSP00000362243:P33S;ENSP00000362244:P33S	ENSP00000320228:P33S	P	+	1	0	MAP7D1	36409209	0.915000	0.31059	1.000000	0.80357	0.946000	0.59487	0.649000	0.24843	2.700000	0.92200	0.563000	0.77884	CCT		0.602	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		28	37	0	0	0	1	0	28	37				
EIF2S2	8894	broad.mit.edu	37	20	32686339	32686339	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:32686339A>G	ENST00000374980.2	-	4	619	c.398T>C	c.(397-399)tTc>tCc	p.F133S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	133					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTCATCTGGGAACTTAACATT	0.398																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(397-399)tTc>tCc		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							123.0	117.0	119.0					20																	32686339		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32686339A>G	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.398T>C	20.37:g.32686339A>G	ENSP00000364119:p.Phe133Ser						p.F133S	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			4	619	-			133					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.398T>C	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776518	0.49786	.	.	ENSG00000125977	ENST00000374980	T	0.40756	1.02	5.81	5.81	0.92471	.	0.048977	0.85682	D	0.000000	T	0.32704	0.0838	L	0.39898	1.24	0.38506	D	0.948342	B;B;B	0.33073	0.363;0.396;0.396	B;B;B	0.29862	0.108;0.034;0.034	T	0.18681	-1.0329	10	0.09084	T	0.74	-34.5295	16.1549	0.81657	1.0:0.0:0.0:0.0	.	133;133;133	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	S	133	ENSP00000364119:F133S	ENSP00000364119:F133S	F	-	2	0	EIF2S2	32150000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.207000	0.71202	0.528000	0.53228	TTC		0.398	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		13	52	0	0	0	1	0	13	52				
BCL9L	283149	broad.mit.edu	37	11	118769943	118769943	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:118769943G>A	ENST00000334801.3	-	8	4645	c.3681C>T	c.(3679-3681)ccC>ccT	p.P1227P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1227	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGGGGGAAGGGCATCATCT	0.716																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3679-3681)ccC>ccT		B-cell CLL/lymphoma 9-like							5.0	7.0	6.0					11																	118769943		2071	4182	6253	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769943G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3681C>T	11.37:g.118769943G>A						BCL9L_ENST00000526143.1_5'UTR	p.P1227P	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4645	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1227			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.3681C>T	CCDS8403.1																																																																																				0.716	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		3	4	0	0	0	1	0	3	4				
TMTC3	160418	broad.mit.edu	37	12	88582625	88582625	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:88582625A>G	ENST00000266712.6	+	11	1658	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	480					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTAGATGATATTGGTGCCCA	0.274																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1438-1440)Att>Gtt		transmembrane and tetratricopeptide repeat containing 3							60.0	66.0	64.0					12																	88582625		2203	4288	6491	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88582625A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1438A>G	12.37:g.88582625A>G	ENSP00000266712:p.Ile480Val						p.I480V	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			11	1658	+			480					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1438A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723538	0.68959	.	.	ENSG00000139324	ENST00000266712	T	0.58652	0.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	N	0.21142	0.635	0.58432	D	0.999999	P	0.40083	0.702	P	0.47573	0.55	T	0.43097	-0.9412	10	0.13853	T	0.58	-19.3802	15.1982	0.73112	1.0:0.0:0.0:0.0	.	480	Q6ZXV5-2	.	V	480	ENSP00000266712:I480V	ENSP00000266712:I480V	I	+	1	0	TMTC3	87106756	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.737000	0.91562	1.995000	0.58328	0.482000	0.46254	ATT		0.274	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		15	68	0	0	0	1	0	15	68				
ODF1	4956	broad.mit.edu	37	8	103564042	103564042	+	Silent	SNP	C	C	T	rs369351331		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:103564042C>T	ENST00000285402.3	+	1	243	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	29					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGCATCGACGAATTTAGCA	0.493																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(85-87)gaC>gaT		outer dense fiber of sperm tails 1		C		0,4406		0,0,2203	331.0	250.0	277.0		87	-0.9	1.0	8		277	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ODF1	NM_024410.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		29/251	103564042	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564042C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.87C>T	8.37:g.103564042C>T							p.D29D	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	243	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		29					Q3SX72	Silent	SNP	ENST00000285402.3	37	c.87C>T	CCDS6293.1																																																																																				0.493	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			37	108	0	0	0	1	0	37	108				
TTLL10	254173	broad.mit.edu	37	1	1118297	1118297	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:1118297G>A	ENST00000379290.1	+	11	1131	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	TTLL10_ENST00000379289.1_Missense_Mutation_p.G320S|TTLL10_ENST00000379288.3_Missense_Mutation_p.G247S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	320	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAACCAGGGCAAAGGCAT	0.647																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(958-960)Ggc>Agc		tubulin tyrosine ligase-like family, member 10							34.0	24.0	27.0					1																	1118297		2197	4297	6494	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1118297G>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.958G>A	1.37:g.1118297G>A	ENSP00000368592:p.Gly320Ser					TTLL10_ENST00000379288.3_Missense_Mutation_p.G247S|TTLL10_ENST00000379289.1_Missense_Mutation_p.G320S	p.G320S			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	11	1131	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	320			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.958G>A	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926488	0.73327	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.16457	2.34;2.34;2.34	3.6	2.66	0.31614	.	0.238372	0.33772	U	0.004566	T	0.46756	0.1409	M	0.92169	3.28	0.40193	D	0.977428	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.54255	-0.8321	10	0.87932	D	0	.	8.9874	0.36003	0.0:0.228:0.772:0.0	.	247;320	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	S	320;320;247	ENSP00000368592:G320S;ENSP00000368591:G320S;ENSP00000368590:G247S	ENSP00000368590:G247S	G	+	1	0	TTLL10	1108160	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.587000	0.74071	0.833000	0.34828	0.486000	0.48141	GGC		0.647	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		4	3	0	0	0	1	0	4	3				
ADARB2	105	broad.mit.edu	37	10	1405854	1405854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:1405854C>T	ENST00000381312.1	-	3	771	c.446G>A	c.(445-447)gGc>gAc	p.G149D	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	149	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATGCACCGGGCCCGTCTGCGA	0.682																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(445-447)gGc>gAc		adenosine deaminase, RNA-specific, B2 (non-functional)							31.0	27.0	29.0					10																	1405854		2203	4299	6502	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405854C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.446G>A	10.37:g.1405854C>T	ENSP00000370713:p.Gly149Asp						p.G149D	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	771	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	149			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.446G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.754871	0.89843	.	.	ENSG00000185736	ENST00000381312	D	0.81821	-1.54	5.14	4.24	0.50183	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.099026	0.64402	D	0.000001	D	0.92971	0.7763	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94714	0.7895	10	0.87932	D	0	-38.8917	13.4946	0.61416	0.0:0.9245:0.0:0.0755	.	149	Q9NS39	RED2_HUMAN	D	149	ENSP00000370713:G149D	ENSP00000370713:G149D	G	-	2	0	ADARB2	1395854	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.705000	0.84606	1.163000	0.42636	0.558000	0.71614	GGC		0.682	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		7	18	0	0	0	1	0	7	18				
FBXO34	55030	broad.mit.edu	37	14	55817321	55817321	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:55817321C>T	ENST00000313833.4	+	2	458	c.213C>T	c.(211-213)tgC>tgT	p.C71C	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.C71C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	71										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATGTTCTGTGCAGTATGAGTG	0.463																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(211-213)tgC>tgT		F-box protein 34							126.0	123.0	124.0					14																	55817321		2203	4300	6503	SO:0001819	synonymous_variant	55030							g.chr14:55817321C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.213C>T	14.37:g.55817321C>T						FBXO34_ENST00000440021.1_Silent_p.C71C|FBXO34_ENST00000555087.1_3'UTR	p.C71C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	458	+			71					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.213C>T	CCDS32086.1																																																																																				0.463	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			24	83	0	0	0	1	0	24	83				
ADCK5	203054	broad.mit.edu	37	8	145616448	145616448	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:145616448C>T	ENST00000308860.6	+	6	702	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	220	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGCCAAGCTGCACGATGGCAC	0.632																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(658-660)Cac>Tac		aarF domain containing kinase 5							65.0	66.0	65.0					8																	145616448		2203	4300	6503	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616448C>T	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.658C>T	8.37:g.145616448C>T	ENSP00000310547:p.His220Tyr					ADCK5_ENST00000526231.2_3'UTR	p.H220Y	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		6	702	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		220			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.658C>T	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	C	3.865	-0.029047	0.07589	.	.	ENSG00000173137	ENST00000308860	T	0.51817	0.69	5.19	3.29	0.37713	ABC-1 (1);Protein kinase-like domain (1);	0.960481	0.08722	N	0.903333	T	0.50735	0.1633	M	0.71871	2.18	0.80722	D	1	B	0.27951	0.195	B	0.38921	0.285	T	0.40270	-0.9572	10	0.14252	T	0.57	-15.349	9.046	0.36347	0.1618:0.6804:0.1578:0.0	.	220	Q3MIX3	ADCK5_HUMAN	Y	220	ENSP00000310547:H220Y	ENSP00000310547:H220Y	H	+	1	0	ADCK5	145587256	0.995000	0.38212	0.759000	0.31340	0.740000	0.42216	3.277000	0.51654	2.419000	0.82065	0.462000	0.41574	CAC		0.632	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		15	68	0	0	0	1	0	15	68				
AIM1	202	broad.mit.edu	37	6	106967047	106967047	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:106967047C>T	ENST00000369066.3	+	2	1227	c.740C>T	c.(739-741)cCt>cTt	p.P247L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTAAAACCCCTAAGAATCTT	0.403																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(739-741)cCt>cTt		absent in melanoma 1							54.0	54.0	54.0					6																	106967047		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967047C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.740C>T	6.37:g.106967047C>T	ENSP00000358062:p.Pro247Leu						p.P247L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1227	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	247					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.740C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631183	0.87660	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.87650	-2.28	5.59	5.59	0.84812	.	0.503234	0.16909	N	0.194546	D	0.84433	0.5471	L	0.58101	1.795	0.80722	D	1	P	0.42785	0.79	B	0.41571	0.36	D	0.86744	0.1956	10	0.72032	D	0.01	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	247	Q9Y4K1	AIM1_HUMAN	L	655;247	ENSP00000358062:P247L	ENSP00000285105:P655L	P	+	2	0	AIM1	107073740	0.063000	0.20901	0.999000	0.59377	0.997000	0.91878	3.763000	0.55257	2.635000	0.89317	0.555000	0.69702	CCT		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			7	63	0	0	0	1	0	7	63				
AGPS	8540	broad.mit.edu	37	2	178305725	178305725	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178305725C>T	ENST00000264167.4	+	6	816	c.670C>T	c.(670-672)Cta>Tta	p.L224L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	224	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GATTGTGAATCTAGCTTGCAA	0.269																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(670-672)Cta>Tta		alkylglycerone phosphate synthase							155.0	156.0	156.0					2																	178305725		2203	4296	6499	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178305725C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.670C>T	2.37:g.178305725C>T						AGPS_ENST00000409888.1_Intron	p.L224L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		6	816	+			224			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.670C>T	CCDS2275.1																																																																																				0.269	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			31	65	0	0	0	1	0	31	65				
PAQR7	164091	broad.mit.edu	37	1	26190120	26190120	+	Missense_Mutation	SNP	C	C	T	rs149765684	byFrequency	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:26190120C>T	ENST00000374296.3	-	2	877	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	71					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.E71K(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGGCCTCGTTGTGCTGC	0.642																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			1	Substitution - Missense(1)	p.E71K(1)	large_intestine(1)	breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(211-213)Gag>Aag		progestin and adipoQ receptor family member VII		C	LYS/GLU	0,4406		0,0,2203	53.0	56.0	55.0		211	3.8	1.0	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PAQR7	NM_178422.5	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	71/347	26190120	2,13004	2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190120C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.211G>A	1.37:g.26190120C>T	ENSP00000363414:p.Glu71Lys						p.E71K	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	877	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	71					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.211G>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935751	0.92458	0.0	2.33E-4	ENSG00000182749	ENST00000374296	T	0.42131	0.98	4.75	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73534	-0.3952	10	0.87932	D	0	-20.4821	12.3268	0.55015	0.0:0.9159:0.0:0.0841	.	71	Q86WK9	MPRA_HUMAN	K	71	ENSP00000363414:E71K	ENSP00000363414:E71K	E	-	1	0	PAQR7	26062707	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.585000	0.82584	1.360000	0.45960	0.655000	0.94253	GAG		0.642	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		11	46	0	0	0	1	0	11	46				
LAX1	54900	broad.mit.edu	37	1	203740566	203740566	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:203740566A>C	ENST00000442561.2	+	3	661	c.271A>C	c.(271-273)Aat>Cat	p.N91H	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.N75H	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	91					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCCAAAAATATTTATGA	0.463																																						ENST00000442561.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(271-273)Aat>Cat		lymphocyte transmembrane adaptor 1							221.0	216.0	218.0					1																	203740566		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203740566A>C	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.271A>C	1.37:g.203740566A>C	ENSP00000406970:p.Asn91His					LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.N75H	p.N91H	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	661	+	all_cancers(21;0.0915)		91					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.271A>C	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942819	0.73672	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000003	T	0.72334	0.3447	L	0.61218	1.895	0.35108	D	0.765919	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81200	-0.1041	9	0.87932	D	0	-25.8042	12.3652	0.55224	1.0:0.0:0.0:0.0	.	75;91	B7Z744;Q8IWV1	.;LAX1_HUMAN	H	91;75	.	ENSP00000356186:N75H	N	+	1	0	LAX1	202007189	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.132000	0.57977	2.164000	0.68074	0.533000	0.62120	AAT		0.463	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		38	190	0	0	0	1	0	38	190				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143524	21143524	+	RNA	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:21143524A>T	ENST00000591761.1	-	0	5054				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGTCACAAAAGCCCTTCAGA	0.453																																						ENST00000591761.1																			0																				34.0	35.0	34.0					20																	21143524		2180	4294	6474			101929591							g.chr20:21143524A>T																													20.37:g.21143524A>T						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5054	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.453	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			10	16	0	0	0	1	0	10	16				
NSMF	26012	broad.mit.edu	37	9	140343854	140343854	+	Missense_Mutation	SNP	C	C	T	rs201367314		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:140343854C>T	ENST00000371475.3	-	16	1816	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	NSMF_ENST00000371472.2_Missense_Mutation_p.V527I|NSMF_ENST00000371473.3_Missense_Mutation_p.V499I|NSMF_ENST00000371474.3_Missense_Mutation_p.V504I|NSMF_ENST00000371482.1_Missense_Mutation_p.V193I|NSMF_ENST00000437259.1_Missense_Mutation_p.V506I|NSMF_ENST00000541195.1_Missense_Mutation_p.V326I|NSMF_ENST00000392812.4_Missense_Mutation_p.V506I|NSMF_ENST00000265663.7_Missense_Mutation_p.V527I|NSMF_ENST00000484316.1_5'Flank|NSMF_ENST00000339554.3_Missense_Mutation_p.V326I	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	529					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										CCTCACAGGACGTCGTCAAAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17417	0.0		0.001	False		,,,				2504	0.0					ENST00000371475.3																			0											c.(1585-1587)Gtc>Atc		NMDA receptor synaptonuclear signaling and neuronal migration factor							69.0	64.0	66.0					9																	140343854		2202	4299	6501	SO:0001583	missense	26012							g.chr9:140343854C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1585G>A	9.37:g.140343854C>T	ENSP00000360530:p.Val529Ile					NSMF_ENST00000392812.4_Missense_Mutation_p.V506I|NSMF_ENST00000541195.1_Missense_Mutation_p.V326I|NSMF_ENST00000437259.1_Missense_Mutation_p.V506I|NSMF_ENST00000371472.2_Missense_Mutation_p.V527I|NSMF_ENST00000371473.3_Missense_Mutation_p.V499I|NSMF_ENST00000265663.7_Missense_Mutation_p.V527I|NSMF_ENST00000339554.3_Missense_Mutation_p.V326I|NSMF_ENST00000371482.1_Missense_Mutation_p.V193I|NSMF_ENST00000371474.3_Missense_Mutation_p.V504I	p.V529I	NM_001130969.1	NP_001124441.1					16	1816	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.1585G>A	CCDS48069.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.118	0.780374	0.16120	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.44083	1.0;1.01;1.01;0.98;0.98;0.98;0.96;0.96;1.01;0.93	4.83	3.8	0.43715	.	0.318414	0.29814	N	0.011131	T	0.29783	0.0744	N	0.03608	-0.345	0.30422	N	0.778032	B;B;B;B;B;D;D	0.63046	0.061;0.011;0.008;0.061;0.061;0.992;0.992	B;B;B;B;B;D;D	0.67548	0.016;0.002;0.006;0.016;0.016;0.952;0.952	T	0.22452	-1.0216	10	0.15499	T	0.54	-14.5715	4.2992	0.10916	0.0:0.7104:0.0:0.2896	.	506;326;280;504;499;529;527	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	I	326;529;527;506;506;504;499;193;527;326	ENSP00000342966:V326I;ENSP00000360530:V529I;ENSP00000265663:V527I;ENSP00000412007:V506I;ENSP00000376559:V506I;ENSP00000360529:V504I;ENSP00000360528:V499I;ENSP00000360537:V193I;ENSP00000360527:V527I;ENSP00000444177:V326I	ENSP00000265663:V527I	V	-	1	0	NELF	139463675	0.975000	0.34042	0.809000	0.32408	0.133000	0.20885	1.860000	0.39428	2.231000	0.72958	0.313000	0.20887	GTC		0.652	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		7	71	0	0	0	1	0	7	71				
TUBA1A	7846	broad.mit.edu	37	12	49579180	49579180	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:49579180C>A	ENST00000295766.5	-	4	1448	c.969G>T	c.(967-969)gtG>gtT	p.V323V	TUBA1A_ENST00000301071.7_Silent_p.V323V|TUBA1A_ENST00000550767.1_Silent_p.V288V	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	323					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTTTGGGAACCACGTCACCAC	0.512																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(967-969)gtG>gtT		tubulin, alpha 1a							83.0	67.0	73.0					12																	49579180		2203	4298	6501	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579180C>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.969G>T	12.37:g.49579180C>A						TUBA1A_ENST00000295766.5_Silent_p.V323V|TUBA1A_ENST00000550767.1_Silent_p.V288V	p.V323V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1313	-			323					A8K0B8|G3V1U9|P04687|P05209	Silent	SNP	ENST00000295766.5	37	c.969G>T	CCDS58227.1																																																																																				0.512	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		13	63	1	0	3.62473e-10	1	3.82799e-10	13	63				
WDR70	55100	broad.mit.edu	37	5	37396549	37396549	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396549C>T	ENST00000265107.4	+	5	525	c.369C>T	c.(367-369)ccC>ccT	p.P123P	WDR70_ENST00000504564.1_Silent_p.P123P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	123							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCTTTACCCCCTAAAATGG	0.413																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(367-369)ccC>ccT		WD repeat domain 70							121.0	114.0	117.0					5																	37396549		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37396549C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.369C>T	5.37:g.37396549C>T						WDR70_ENST00000504564.1_Silent_p.P123P	p.P123P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	525	+	all_lung(31;0.000285)		123					Q9H053	Silent	SNP	ENST00000265107.4	37	c.369C>T	CCDS34147.1																																																																																				0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		25	114	0	0	0	1	0	25	114				
PCDHGB4	8641	broad.mit.edu	37	5	140768882	140768882	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:140768882G>A	ENST00000519479.1	+	1	1431	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCCGGACTTGGGGC	0.572																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1429-1431)ccG>ccA									69.0	78.0	75.0					5																	140768882		1935	4121	6056	SO:0001819	synonymous_variant	8641							g.chr5:140768882G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1431G>A	5.37:g.140768882G>A						PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P477P	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1431	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1431G>A	CCDS54928.1																																																																																				0.572	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		71	73	0	0	0	1	0	71	73				
SNTB1	6641	broad.mit.edu	37	8	121561179	121561179	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:121561179C>T	ENST00000395601.3	-	6	1570	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	SNTB1_ENST00000517992.1_Missense_Mutation_p.G386R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	386	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCCTTTCCTGGACCTGAA	0.493																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(1156-1158)Gga>Aga		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							111.0	93.0	99.0					8																	121561179		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121561179C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1156G>A	8.37:g.121561179C>T	ENSP00000378965:p.Gly386Arg					SNTB1_ENST00000517992.1_Missense_Mutation_p.G386R	p.G386R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	1570	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		386			PH 2.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.1156G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802912	0.31869	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.75154	-0.91;-0.91	5.74	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.204155	0.52532	D	0.000065	T	0.74550	0.3731	L	0.27053	0.805	0.46586	D	0.999117	P	0.48764	0.915	P	0.58210	0.835	T	0.70249	-0.4924	10	0.16896	T	0.51	.	16.7542	0.85495	0.0:0.8707:0.1293:0.0	.	386	Q13884	SNTB1_HUMAN	R	386	ENSP00000378965:G386R;ENSP00000431124:G386R	ENSP00000378965:G386R	G	-	1	0	SNTB1	121630360	0.608000	0.26966	0.988000	0.46212	0.083000	0.17756	4.858000	0.62947	1.409000	0.46915	-0.302000	0.09304	GGA		0.493	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		11	36	0	0	0	1	0	11	36				
PDE11A	50940	broad.mit.edu	37	2	178684957	178684957	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178684957G>T	ENST00000286063.6	-	7	1883	c.1566C>A	c.(1564-1566)caC>caA	p.H522Q	PDE11A_ENST00000409504.1_Missense_Mutation_p.H164Q|PDE11A_ENST00000449286.2_Missense_Mutation_p.H164Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.H272Q|PDE11A_ENST00000389683.3_Missense_Mutation_p.H78Q|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	522	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CAATTATTTGGTGGTTGCTAT	0.313									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1564-1566)caC>caA		phosphodiesterase 11A							71.0	76.0	74.0					2																	178684957		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178684957G>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1566C>A	2.37:g.178684957G>T	ENSP00000286063:p.His522Gln					PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.H164Q|PDE11A_ENST00000449286.2_Missense_Mutation_p.H164Q|PDE11A_ENST00000389683.3_Missense_Mutation_p.H78Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.H272Q	p.H522Q	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		7	1883	-			522			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1566C>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.860766|1.860766	0.32884|0.32884	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15;-0.15|.	5.75|5.75	2.96|2.96	0.34315|0.34315	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.28300|0.28300	0.0699|0.0699	N|N	0.03948|0.03948	-0.315|-0.315	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.99|.	P;P|.	0.62491|.	0.843;0.903|.	T|T	0.06058|0.06058	-1.0848|-1.0848	10|5	0.27082|.	T|.	0.32|.	.|.	8.716|8.716	0.34411|0.34411	0.289:0.0:0.711:0.0|0.289:0.0:0.711:0.0	.|.	272;522|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	Q|N	522;272;164;78;164|161	ENSP00000286063:H522Q;ENSP00000351232:H272Q;ENSP00000386539:H164Q;ENSP00000374333:H78Q;ENSP00000390599:H164Q|.	ENSP00000286063:H522Q|.	H|T	-|-	3|2	2|0	PDE11A|PDE11A	178393203|178393203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.544000|1.544000	0.36158|0.36158	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.313	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			52	80	1	0	2.37494e-14	1	2.58047e-14	52	80				
ZNF536	9745	broad.mit.edu	37	19	31039416	31039416	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:31039416T>A	ENST00000355537.3	+	4	3037	c.2890T>A	c.(2890-2892)Tcc>Acc	p.S964T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	964					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGCAAGTCCTCCCAGAGGAA	0.582																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2890-2892)Tcc>Acc		zinc finger protein 536							98.0	106.0	103.0					19																	31039416		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039416T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2890T>A	19.37:g.31039416T>A	ENSP00000347730:p.Ser964Thr						p.S964T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3037	+	Esophageal squamous(110;0.0834)		964					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2890T>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	1.532	-0.544177	0.04024	.	.	ENSG00000198597	ENST00000355537	T	0.08193	3.12	5.78	3.67	0.42095	.	0.700532	0.15160	N	0.277184	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.45991	-0.9223	10	0.13853	T	0.58	-5.8649	5.4768	0.16700	0.0:0.1701:0.2077:0.6222	.	964;964	A7E228;O15090	.;ZN536_HUMAN	T	964	ENSP00000347730:S964T	ENSP00000347730:S964T	S	+	1	0	ZNF536	35731256	0.837000	0.29446	0.034000	0.17996	0.639000	0.38242	1.469000	0.35343	0.548000	0.28955	0.459000	0.35465	TCC		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		38	168	0	0	0	1	0	38	168				
GYPE	2996	broad.mit.edu	37	4	144797955	144797955	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:144797955G>C	ENST00000358615.4	-	3	241	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	GYPE_ENST00000437468.2_Missense_Mutation_p.L64V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	64						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					ACAACAACAAGCATCACCTCA	0.353																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(190-192)Ctt>Gtt		glycophorin E (MNS blood group)							125.0	119.0	121.0					4																	144797955		2010	4207	6217	SO:0001583	missense	2996					integral to plasma membrane		g.chr4:144797955G>C		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.190C>G	4.37:g.144797955G>C	ENSP00000351430:p.Leu64Val					GYPE_ENST00000437468.2_Missense_Mutation_p.L64V	p.L64V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			3	241	-	all_hematologic(180;0.158)		64					D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	37	c.190C>G	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	g	5.572	0.290410	0.10567	.	.	ENSG00000197465	ENST00000358615;ENST00000437468	T;T	0.03386	3.95;3.95	1.8	-0.11	0.13580	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.39800	-0.9596	8	0.72032	D	0.01	.	7.5276	0.27664	0.0:0.4635:0.5365:0.0	.	64	P15421	GLPE_HUMAN	V	64	ENSP00000351430:L64V;ENSP00000400698:L64V	ENSP00000351430:L64V	L	-	1	0	GYPE	145017405	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	0.195000	0.17155	-0.066000	0.12998	-1.064000	0.02280	CTT		0.353	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		3	19	0	0	0	1	0	3	19				
CCDC185	164127	broad.mit.edu	37	1	223567513	223567513	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:223567513C>G	ENST00000366875.3	+	1	799	c.696C>G	c.(694-696)agC>agG	p.S232R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		232										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGCCTCCAGCAAAGAGATGC	0.622																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(694-696)agC>agG		chromosome 1 open reading frame 65							46.0	48.0	47.0					1																	223567513		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223567513C>G																												ENST00000366875.3:c.696C>G	1.37:g.223567513C>G	ENSP00000355840:p.Ser232Arg						p.S232R	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	799	+			232					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.696C>G	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658586	0.47467	.	.	ENSG00000178395	ENST00000366875	T	0.19394	2.15	4.5	2.63	0.31362	.	.	.	.	.	T	0.17023	0.0409	L	0.51422	1.61	0.09310	N	1	P	0.37573	0.6	B	0.35971	0.215	T	0.17868	-1.0355	9	0.45353	T	0.12	.	4.0618	0.09843	0.1846:0.6183:0.0:0.1971	.	232	Q8N715	CA065_HUMAN	R	232	ENSP00000355840:S232R	ENSP00000355840:S232R	S	+	3	2	C1orf65	221634136	0.010000	0.17322	0.005000	0.12908	0.038000	0.13279	0.250000	0.18235	0.337000	0.23665	0.650000	0.86243	AGC		0.622	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			4	53	0	0	0	1	0	4	53				
MEIS3	56917	broad.mit.edu	37	19	47920458	47920458	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920458C>T	ENST00000558555.1	-	2	349	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MEIS3_ENST00000559524.1_Silent_p.K54K|MEIS3_ENST00000561293.1_Silent_p.K54K|MEIS3_ENST00000441740.2_Silent_p.K54K|MEIS3_ENST00000331559.5_Silent_p.K54K|MEIS3_ENST00000561096.1_Silent_p.K142K			Q99687	MEIS3_HUMAN	Meis homeobox 3	54					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCTTCTCCCTCTTCAGGCCGT	0.632																																						ENST00000331559.5																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(160-162)aaG>aaA		Meis homeobox 3							38.0	48.0	44.0					19																	47920458		2203	4300	6503	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920458C>T	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.162G>A	19.37:g.47920458C>T						MEIS3_ENST00000559524.1_Silent_p.K54K|MEIS3_ENST00000561293.1_Silent_p.K54K|MEIS3_ENST00000441740.2_Silent_p.K54K|MEIS3_ENST00000558555.1_Silent_p.K54K|MEIS3_ENST00000561096.1_Silent_p.K142K	p.K54K	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	2	603	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	54					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.162G>A																																																																																					0.632	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		4	73	0	0	0	1	0	4	73				
DSEL	92126	broad.mit.edu	37	18	65180503	65180503	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr18:65180503A>T	ENST00000310045.7	-	2	2846	c.1373T>A	c.(1372-1374)aTa>aAa	p.I458K	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	448					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAATGAACTATGTCATACAC	0.468																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1372-1374)aTa>aAa		dermatan sulfate epimerase-like							84.0	83.0	83.0					18																	65180503		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180503A>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1373T>A	18.37:g.65180503A>T	ENSP00000310565:p.Ile458Lys					CTD-2541J13.2_ENST00000583493.1_RNA	p.I458K	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2846	-		Esophageal squamous(42;0.129)	448					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1373T>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199280	0.79015	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.21932	1.98	5.46	5.46	0.80206	.	0.119585	0.52532	U	0.000063	T	0.41026	0.1141	M	0.73962	2.25	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.39941	-0.9589	10	0.87932	D	0	-19.9952	15.2042	0.73165	1.0:0.0:0.0:0.0	.	448	Q8IZU8	DSEL_HUMAN	K	458;448	ENSP00000310565:I458K	ENSP00000310565:I458K	I	-	2	0	DSEL	63331483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.113000	0.94321	2.083000	0.62718	0.460000	0.39030	ATA		0.468	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		23	38	0	0	0	1	0	23	38				
MEIS3	56917	broad.mit.edu	37	19	47920461	47920461	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920461C>T	ENST00000558555.1	-	2	346	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MEIS3_ENST00000559524.1_Silent_p.L53L|MEIS3_ENST00000561293.1_Silent_p.L53L|MEIS3_ENST00000441740.2_Silent_p.L53L|MEIS3_ENST00000331559.5_Silent_p.L53L|MEIS3_ENST00000561096.1_Silent_p.L141L			Q99687	MEIS3_HUMAN	Meis homeobox 3	53					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TCTCCCTCTTCAGGCCGTCGC	0.637																																						ENST00000331559.5																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(157-159)ctG>ctA		Meis homeobox 3							37.0	47.0	44.0					19																	47920461		2203	4300	6503	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47920461C>T	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.159G>A	19.37:g.47920461C>T						MEIS3_ENST00000559524.1_Silent_p.L53L|MEIS3_ENST00000561293.1_Silent_p.L53L|MEIS3_ENST00000441740.2_Silent_p.L53L|MEIS3_ENST00000558555.1_Silent_p.L53L|MEIS3_ENST00000561096.1_Silent_p.L141L	p.L53L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	2	600	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	53					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.159G>A																																																																																					0.637	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		4	76	0	0	0	1	0	4	76				
NAV3	89795	broad.mit.edu	37	12	78511895	78511895	+	Missense_Mutation	SNP	G	G	A	rs572731398		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511895G>A	ENST00000397909.2	+	14	3031	c.2858G>A	c.(2857-2859)aGc>aAc	p.S953N	NAV3_ENST00000536525.2_Missense_Mutation_p.S953N|NAV3_ENST00000228327.6_Missense_Mutation_p.S953N|NAV3_ENST00000266692.7_Missense_Mutation_p.S953N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATTTTGACAGCCATGGGGAT	0.502										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2857-2859)aGc>aAc		neuron navigator 3							133.0	141.0	139.0					12																	78511895		1943	4147	6090	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78511895G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2858G>A	12.37:g.78511895G>A	ENSP00000381007:p.Ser953Asn	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S953N|NAV3_ENST00000228327.6_Missense_Mutation_p.S953N|NAV3_ENST00000266692.7_Missense_Mutation_p.S953N	p.S953N			Q8IVL0	NAV3_HUMAN			14	3031	+			953					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2858G>A		.	.	.	.	.	.	.	.	.	.	G	14.73	2.623501	0.46840	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	6.04	3.17	0.36434	.	0.309580	0.22344	U	0.061288	T	0.32763	0.0840	L	0.34521	1.04	0.22424	N	0.999113	B;B;B	0.20671	0.046;0.0;0.047	B;B;B	0.20184	0.028;0.0;0.023	T	0.26916	-1.0089	10	0.66056	D	0.02	-7.1232	4.9662	0.14091	0.1287:0.1175:0.6324:0.1215	.	953;953;953	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	N	953	ENSP00000446132:S953N;ENSP00000381007:S953N;ENSP00000228327:S953N;ENSP00000266692:S953N	ENSP00000228327:S953N	S	+	2	0	NAV3	77036026	0.727000	0.28069	0.806000	0.32338	0.992000	0.81027	1.560000	0.36331	0.855000	0.35359	0.563000	0.77884	AGC		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	99	0	0	0	1	0	18	99				
ZNF37A	7587	broad.mit.edu	37	10	38407507	38407507	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:38407507C>T	ENST00000361085.5	+	7	1773	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	ZNF37A_ENST00000351773.3_Silent_p.F476F	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	476					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GGAAAACCTTCCGTCAGAAGT	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1426-1428)ttC>ttT		zinc finger protein 37A							58.0	59.0	58.0					10																	38407507		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407507C>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1428C>T	10.37:g.38407507C>T						ZNF37A_ENST00000361085.4_Silent_p.F476F	p.F476F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2258	+			476					B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.1428C>T	CCDS31183.1																																																																																				0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		12	47	0	0	0	1	0	12	47				
FANCA	2175	broad.mit.edu	37	16	89880932	89880932	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:89880932A>T	ENST00000389301.3	-	3	309	c.279T>A	c.(277-279)ttT>ttA	p.F93L	FANCA_ENST00000568369.1_Missense_Mutation_p.F93L|FANCA_ENST00000389302.3_Missense_Mutation_p.F93L|FANCA_ENST00000543736.1_Missense_Mutation_p.F93L|FANCA_ENST00000534992.1_Missense_Mutation_p.F93L|FANCA_ENST00000563673.1_Missense_Mutation_p.F93L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	93					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTTACCTATAAATGAACTAG	0.323			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(277-279)ttT>ttA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							83.0	81.0	82.0					16																	89880932		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89880932A>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.279T>A	16.37:g.89880932A>T	ENSP00000373952:p.Phe93Leu					FANCA_ENST00000543736.1_Missense_Mutation_p.F93L|FANCA_ENST00000534992.1_Missense_Mutation_p.F93L|FANCA_ENST00000389302.3_Missense_Mutation_p.F93L|FANCA_ENST00000568369.1_Missense_Mutation_p.F93L|FANCA_ENST00000563673.1_Missense_Mutation_p.F93L	p.F93L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	3	309	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	93					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.279T>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018303	0.35606	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.94	-5.94	0.02247	.	0.414976	0.20383	N	0.093412	T	0.20981	0.0505	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;B	0.14438	0.009;0.003;0.01;0.01;0.01;0.009	B;B;B;B;B;B	0.14578	0.011;0.007;0.007;0.007;0.007;0.011	T	0.07424	-1.0773	10	0.21014	T	0.42	-1.8344	6.4677	0.21991	0.2983:0.3871:0.3147:0.0	.	93;93;93;93;93;93	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	L	93	ENSP00000373952:F93L;ENSP00000373953:F93L;ENSP00000443675:F93L;ENSP00000443409:F93L	ENSP00000373952:F93L	F	-	3	2	FANCA	88408433	0.002000	0.14202	0.004000	0.12327	0.563000	0.35712	-1.170000	0.03118	-1.645000	0.01515	0.524000	0.50904	TTT		0.323	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			11	48	0	0	0	1	0	11	48				
SLCO1C1	53919	broad.mit.edu	37	12	20874888	20874888	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:20874888A>T	ENST00000266509.2	+	8	1294	c.926A>T	c.(925-927)aAt>aTt	p.N309I	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N309I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N191I|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.N309I|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N260I	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	309					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GAGGATTCTAATTCTTCCTCT	0.388																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(925-927)aAt>aTt		solute carrier organic anion transporter family, member 1C1							64.0	65.0	65.0					12																	20874888		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874888A>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.926A>T	12.37:g.20874888A>T	ENSP00000266509:p.Asn309Ile					SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N260I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N191I|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N309I|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N309I	p.N309I			Q9NYB5	SO1C1_HUMAN			8	1294	+	Esophageal squamous(101;0.149)		309					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.926A>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	5.896	0.349473	0.11182	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.81163	1.06;1.06;1.06;1.06;-1.46	4.76	-7.14	0.01527	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.717000	0.02319	N	0.072846	T	0.63283	0.2498	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.13407	0.005;0.003;0.009;0.003	T	0.52200	-0.8607	10	0.35671	T	0.21	.	16.3116	0.82873	0.1353:0.0:0.7556:0.1091	.	191;260;309;309	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	I	309;260;309;309;191	ENSP00000444149:N309I;ENSP00000438665:N260I;ENSP00000266509:N309I;ENSP00000370964:N309I;ENSP00000444527:N191I	ENSP00000266509:N309I	N	+	2	0	SLCO1C1	20766155	0.004000	0.15560	0.000000	0.03702	0.332000	0.28634	0.258000	0.18387	-1.149000	0.02843	-0.371000	0.07208	AAT		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		15	51	0	0	0	1	0	15	51				
TLR2	7097	broad.mit.edu	37	4	154626302	154626302	+	Missense_Mutation	SNP	G	G	A	rs370330063		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:154626302G>A	ENST00000260010.6	+	1	3651	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	748	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ATTCCCCAGCGCTTCTGCAAG	0.493																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(2242-2244)cGc>cAc		toll-like receptor 2		G	HIS/ARG	0,4406		0,0,2203	98.0	98.0	98.0		2243	5.8	1.0	4		98	1,8599		0,1,4299	no	missense	TLR2	NM_003264.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	748/785	154626302	1,13005	2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626302G>A	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2243G>A	4.37:g.154626302G>A	ENSP00000260010:p.Arg748His						p.R748H	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	3651	+	all_hematologic(180;0.093)	Renal(120;0.117)	748			TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.2243G>A	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746639	0.89663	0.0	1.16E-4	ENSG00000137462	ENST00000260010	T	0.08282	3.11	5.83	5.83	0.93111	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	P	0.61070	0.883	T	0.00067	-1.2142	10	0.87932	D	0	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	748	O60603	TLR2_HUMAN	H	748	ENSP00000260010:R748H	ENSP00000260010:R748H	R	+	2	0	TLR2	154845752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	2.758000	0.94735	0.655000	0.94253	CGC		0.493	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			20	89	0	0	0	1	0	20	89				
CR1L	1379	broad.mit.edu	37	1	207870959	207870959	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:207870959G>A	ENST00000508064.2	+	6	1034	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	325	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.R333T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACGACCTCAGAGGATCTACG	0.547																																						ENST00000508064.2																			1	Substitution - Missense(1)	p.R333T(1)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(973-975)aGa>aAa		complement component (3b/4b) receptor 1-like							191.0	187.0	188.0					1																	207870959		1939	4137	6076	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207870959G>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.974G>A	1.37:g.207870959G>A	ENSP00000421736:p.Arg325Lys					CR1L_ENST00000530905.1_Intron	p.R325K	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			6	1034	+			325			Sushi 5.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.974G>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	2.242	-0.373698	0.05034	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.63580	-0.05	2.53	-0.0347	0.13895	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.43678	0.1258	L	0.31371	0.925	0.09310	N	1	P	0.41978	0.767	P	0.45449	0.481	T	0.34700	-0.9818	9	0.05959	T	0.93	.	2.9095	0.05732	0.1679:0.0:0.4537:0.3785	.	325	Q2VPA4	CR1L_HUMAN	K	325	ENSP00000421736:R325K	ENSP00000434864:R269K	R	+	2	0	CR1L	205937582	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-1.047000	0.03521	-0.169000	0.10834	0.298000	0.19748	AGA		0.547	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		32	160	0	0	0	1	0	32	160				
TCTE1	202500	broad.mit.edu	37	6	44249930	44249930	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:44249930G>C	ENST00000371505.4	-	4	1335	c.1213C>G	c.(1213-1215)Ccc>Gcc	p.P405A	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	405										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGGCGGTGGGCTCAGACAGC	0.597																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1213-1215)Ccc>Gcc		t-complex-associated-testis-expressed 1							146.0	117.0	127.0					6																	44249930		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44249930G>C	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1213C>G	6.37:g.44249930G>C	ENSP00000360560:p.Pro405Ala					TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	p.P405A	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1335	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		405					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1213C>G	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072409	0.36566	.	.	ENSG00000146221	ENST00000371505	T	0.49432	0.78	5.15	4.25	0.50352	.	0.286897	0.39210	N	0.001435	T	0.21590	0.0520	L	0.36672	1.1	0.80722	D	1	P	0.42456	0.78	B	0.38106	0.265	T	0.03231	-1.1058	10	0.18710	T	0.47	-49.9329	15.0654	0.71989	0.0:0.0:0.8568:0.1432	.	405	Q5JU00	TCTE1_HUMAN	A	405	ENSP00000360560:P405A	ENSP00000360560:P405A	P	-	1	0	TCTE1	44357908	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	4.317000	0.59184	1.257000	0.44085	0.400000	0.26472	CCC		0.597	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		10	41	0	0	0	1	0	10	41				
RLIM	51132	broad.mit.edu	37	X	73811445	73811445	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:73811445T>G	ENST00000332687.6	-	4	1923	c.1705A>C	c.(1705-1707)Acc>Ccc	p.T569P	RLIM_ENST00000349225.2_Missense_Mutation_p.T569P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	569					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACTACAGGTTTTTAATGCA	0.403																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1705-1707)Acc>Ccc		ring finger protein, LIM domain interacting							107.0	84.0	92.0					X																	73811445		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811445T>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1705A>C	X.37:g.73811445T>G	ENSP00000328059:p.Thr569Pro					RLIM_ENST00000349225.2_Missense_Mutation_p.T569P	p.T569P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1923	-			569					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1705A>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705336	0.48412	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.44482	0.92;0.92	5.41	4.24	0.50183	Zinc finger, RING/FYVE/PHD-type (1);	0.095949	0.64402	D	0.000001	T	0.55752	0.1940	L	0.50993	1.605	0.80722	D	1	D	0.65815	0.995	D	0.76575	0.988	T	0.54563	-0.8275	10	0.62326	D	0.03	0.1701	10.3895	0.44160	0.0:0.0777:0.0:0.9223	.	569	Q9NVW2	RNF12_HUMAN	P	569	ENSP00000328059:T569P;ENSP00000253571:T569P	ENSP00000328059:T569P	T	-	1	0	RLIM	73728170	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.911000	0.69939	0.712000	0.32039	0.486000	0.48141	ACC		0.403	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		16	24	0	0	0	1	0	16	24				
OR10Q1	219960	broad.mit.edu	37	11	57995838	57995838	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:57995838C>A	ENST00000316770.2	-	1	552	c.510G>T	c.(508-510)ctG>ctT	p.L170L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAAAAGGGCAGGGTGAAGA	0.657																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(508-510)ctG>ctT		olfactory receptor, family 10, subfamily Q, member 1							58.0	50.0	52.0					11																	57995838		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995838C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.510G>T	11.37:g.57995838C>A							p.L170L	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	552	-		Breast(21;0.0589)	170					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.510G>T	CCDS31547.1																																																																																				0.657	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		11	27	1	0	4.68919e-08	1	4.86127e-08	11	27				
KMT2E	55904	broad.mit.edu	37	7	104748308	104748308	+	Missense_Mutation	SNP	G	G	A	rs150358701		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:104748308G>A	ENST00000311117.3	+	22	3949	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.R1135Q|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1135Q|KMT2E_ENST00000334914.7_Missense_Mutation_p.R190Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1135					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GGTTTCGGACGGACTGTTAAT	0.393																																						ENST00000334877.4																			0											c.(3403-3405)cGg>cAg		lysine (K)-specific methyltransferase 2E		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	69.0	68.0	69.0		3404,3404	5.8	1.0	7	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MLL5	NM_018682.3,NM_182931.2	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1135/1859,1135/1859	104748308	2,13004	2203	4300	6503	SO:0001583	missense	55904							g.chr7:104748308G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3404G>A	7.37:g.104748308G>A	ENSP00000312379:p.Arg1135Gln					KMT2E_ENST00000334914.7_Missense_Mutation_p.R190Q|KMT2E_ENST00000311117.3_Missense_Mutation_p.R1135Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1135Q	p.R1135Q							22	3938	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3404G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569245	0.86439	0.0	2.33E-4	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.34521	1.04	0.52501	D	0.999954	D	0.89917	1.0	D	0.79108	0.992	T	0.56932	-0.7897	10	0.62326	D	0.03	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	1135	Q8IZD2	MLL5_HUMAN	Q	1135;1135;1135;1055;1135;190	ENSP00000312379:R1135Q;ENSP00000335599:R1135Q;ENSP00000257745:R1135Q;ENSP00000333986:R190Q	ENSP00000257745:R1135Q	R	+	2	0	MLL5	104535544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.994000	0.76251	2.753000	0.94483	0.655000	0.94253	CGG		0.393	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			13	37	0	0	0	1	0	13	37				
CCDC141	285025	broad.mit.edu	37	2	179742694	179742694	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:179742694A>T	ENST00000409284.1	-	12	2013	c.1896T>A	c.(1894-1896)aaT>aaA	p.N632K	CCDC141_ENST00000295723.5_Missense_Mutation_p.N57K|CCDC141_ENST00000420890.2_Missense_Mutation_p.N632K			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	632										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTTACCATATTTATTAAAT	0.358																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(1894-1896)aaT>aaA		coiled-coil domain containing 141							89.0	95.0	93.0					2																	179742694		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742694A>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1896T>A	2.37:g.179742694A>T	ENSP00000386503:p.Asn632Lys					CCDC141_ENST00000295723.5_Missense_Mutation_p.N57K|CCDC141_ENST00000409284.1_Missense_Mutation_p.N632K	p.N632K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		12	2013	-			57					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.1896T>A		.	.	.	.	.	.	.	.	.	.	A	10.31	1.315194	0.23908	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.46451	0.87;1.37;1.3;1.47	5.32	-2.26	0.06867	.	0.907778	0.09194	N	0.835597	T	0.25791	0.0628	L	0.32530	0.975	0.28338	N	0.92146	B;B	0.11235	0.001;0.004	B;B	0.09377	0.003;0.004	T	0.28267	-1.0049	10	0.19590	T	0.45	-2.9928	5.7875	0.18340	0.5252:0.0:0.3513:0.1235	.	632;57	B8ZZB3;Q6ZP82	.;CC141_HUMAN	K	632;76;57;632;567;632	ENSP00000395995:N632K;ENSP00000344627:N76K;ENSP00000295723:N57K;ENSP00000390190:N632K	ENSP00000295723:N57K	N	-	3	2	CCDC141	179450939	0.800000	0.28916	0.836000	0.33094	0.742000	0.42306	-0.112000	0.10791	-0.678000	0.05224	-1.366000	0.01203	AAT		0.358	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648		19	89	0	0	0	1	0	19	89				
PDE10A	10846	broad.mit.edu	37	6	165827065	165827065	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:165827065C>T	ENST00000366882.1	-	14	1326	c.1172G>A	c.(1171-1173)aGt>aAt	p.S391N	PDE10A_ENST00000539869.2_Missense_Mutation_p.S401N|PDE10A_ENST00000354448.4_Missense_Mutation_p.S391N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	391	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.S391T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAGAAGGCACTGCCACTGAT	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.S391T(1)	lung(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1171-1173)aGt>aAt		phosphodiesterase 10A	Dipyridamole(DB00975)						118.0	103.0	108.0					6																	165827065		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165827065C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1172G>A	6.37:g.165827065C>T	ENSP00000355847:p.Ser391Asn					PDE10A_ENST00000354448.4_Missense_Mutation_p.S391N|PDE10A_ENST00000539869.2_Missense_Mutation_p.S401N	p.S391N			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	14	1326	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	391			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1172G>A		.	.	.	.	.	.	.	.	.	.	C	16.94	3.259566	0.59321	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66815	-0.23;-0.23	5.63	4.75	0.60458	GAF (2);	0.074371	0.85682	D	0.000000	T	0.43411	0.1246	N	0.13327	0.33	0.54753	D	0.999982	P;B	0.43231	0.801;0.087	P;B	0.46172	0.506;0.195	T	0.46624	-0.9178	10	0.27785	T	0.31	.	16.4911	0.84201	0.0:0.8691:0.1309:0.0	.	401;391	Q9ULW9;Q9Y233	.;PDE10_HUMAN	N	391;419;401;391;390	ENSP00000355847:S391N;ENSP00000346435:S391N	ENSP00000341187:S401N	S	-	2	0	PDE10A	165747055	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	5.605000	0.67634	1.341000	0.45600	0.655000	0.94253	AGT		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			13	80	0	0	0	1	0	13	80				
ROBO3	64221	broad.mit.edu	37	11	124747167	124747167	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747167C>T	ENST00000397801.1	+	19	3000	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Silent_p.S914S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCCAGTGTCCTTCCCGCACT	0.607																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2806-2808)tcC>tcT		roundabout, axon guidance receptor, homolog 3 (Drosophila)							125.0	118.0	120.0					11																	124747167		1891	4106	5997	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124747167C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2808C>T	11.37:g.124747167C>T						ROBO3_ENST00000538940.1_Silent_p.S914S|ROBO3_ENST00000525482.1_Intron	p.S936S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	19	3000	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	936						Silent	SNP	ENST00000397801.1	37	c.2808C>T	CCDS44755.1																																																																																				0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	86	0	0	0	1	0	9	86				
CD163	9332	broad.mit.edu	37	12	7647854	7647854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:7647854C>T	ENST00000359156.4	-	6	1445	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CD163_ENST00000396620.3_Missense_Mutation_p.G415R|CD163_ENST00000432237.2_Missense_Mutation_p.G415R|CD163_ENST00000541972.1_Missense_Mutation_p.G403R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	415	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GATCCACATCCCAGCTGCCTG	0.473																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1243-1245)Gga>Aga		CD163 molecule							176.0	150.0	159.0					12																	7647854		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647854C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1243G>A	12.37:g.7647854C>T	ENSP00000352071:p.Gly415Arg					CD163_ENST00000432237.2_Missense_Mutation_p.G415R|CD163_ENST00000541972.1_Missense_Mutation_p.G403R|CD163_ENST00000396620.3_Missense_Mutation_p.G415R	p.G415R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			6	1445	-			415			SRCR 4.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1243G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476881	0.63849	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.01	3.13	0.36017	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.351438	0.26820	N	0.022328	T	0.69672	0.3137	M	0.80422	2.495	0.36679	D	0.878935	D;B;D	0.89917	1.0;0.169;1.0	D;B;D	0.83275	0.996;0.091;0.991	T	0.74931	-0.3496	10	0.87932	D	0	.	8.3694	0.32406	0.0:0.7556:0.1575:0.0868	.	415;415;415	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	415;403;415;415	ENSP00000352071:G415R;ENSP00000444071:G403R;ENSP00000379863:G415R;ENSP00000403885:G415R	ENSP00000352071:G415R	G	-	1	0	CD163	7539121	0.320000	0.24616	1.000000	0.80357	0.986000	0.74619	2.689000	0.46993	0.778000	0.33520	0.650000	0.86243	GGA		0.473	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		25	85	0	0	0	1	0	25	85				
RBM45	129831	broad.mit.edu	37	2	178988612	178988612	+	Nonsense_Mutation	SNP	G	G	A	rs570468892		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178988612G>A	ENST00000286070.5	+	7	1133	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	349					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAATGGTGTGGAATAACCCAA	0.308																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1039-1041)tgG>tgA		RNA binding motif protein 45							69.0	73.0	71.0					2																	178988612		2203	4300	6503	SO:0001587	stop_gained	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988612G>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1041G>A	2.37:g.178988612G>A	ENSP00000286070:p.Trp347*						p.W347*	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		7	1133	+			349					Q6NYL0|Q8NFC9	Nonsense_Mutation	SNP	ENST00000286070.5	37	c.1041G>A	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.890906|5.890906	0.97074|0.97074	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000455903|ENST00000286070	.|.	.|.	.|.	5.21|5.21	4.31|4.31	0.51392|0.51392	.|.	.|0.113836	.|0.64402	.|D	.|0.000004	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59794|.	-0.7387|.	3|.	.|0.48119	.|T	.|0.1	-1.3038|-1.3038	5.9318|5.9318	0.19142|0.19142	0.0762:0.1377:0.6435:0.1427|0.0762:0.1377:0.6435:0.1427	.|.	.|.	.|.	.|.	E|X	8|347	.|.	.|ENSP00000286070:W347X	G|W	+|+	2|3	0|0	RBM45|RBM45	178696858|178696858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.813000|2.813000	0.48002|0.48002	1.294000|1.294000	0.44707|0.44707	0.467000|0.467000	0.42956|0.42956	GGA|TGG		0.308	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		14	86	0	0	0	1	0	14	86				
FEZF1	389549	broad.mit.edu	37	7	121942936	121942936	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:121942936G>A	ENST00000442488.2	-	3	1053	c.986C>T	c.(985-987)tCc>tTc	p.S329F	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.S279F|FEZF1_ENST00000331178.4_Missense_Mutation_p.S325F|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	329					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTTAAAGTGGAACTTCTATT	0.383																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(985-987)tCc>tTc		FEZ family zinc finger 1							111.0	112.0	111.0					7																	121942936		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942936G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.986C>T	7.37:g.121942936G>A	ENSP00000411145:p.Ser329Phe					FEZF1_ENST00000427185.2_Missense_Mutation_p.S279F|FEZF1_ENST00000331178.4_Missense_Mutation_p.S325F	p.S329F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			3	1053	-			329					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.986C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937311	0.92458	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.24350	1.86;1.86;1.86	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054164	0.85682	D	0.000000	T	0.55465	0.1922	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	T	0.59026	-0.7531	10	0.87932	D	0	-28.069	19.4633	0.94927	0.0:0.0:1.0:0.0	.	329;279	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	F	329;325;279	ENSP00000411145:S329F;ENSP00000332777:S325F;ENSP00000392727:S279F	ENSP00000332777:S325F	S	-	2	0	FEZF1	121730172	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.803000	0.99136	2.666000	0.90696	0.655000	0.94253	TCC		0.383	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		11	84	0	0	0	1	0	11	84				
VWA5A	4013	broad.mit.edu	37	11	124007351	124007351	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124007351C>T	ENST00000456829.2	+	14	1846	c.1595C>T	c.(1594-1596)aCa>aTa	p.T532I	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.T532I	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	532										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATAAGGTGACATTTCCTCTA	0.453																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1594-1596)aCa>aTa		von Willebrand factor A domain containing 5A							182.0	157.0	165.0					11																	124007351		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007351C>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1595C>T	11.37:g.124007351C>T	ENSP00000407726:p.Thr532Ile					VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.T532I	p.T532I	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			14	1846	+			532					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1595C>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846713	0.16963	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04360	3.64;3.64	5.49	3.63	0.41609	.	0.514845	0.22203	N	0.063205	T	0.07683	0.0193	M	0.72479	2.2	0.09310	N	0.999999	P	0.43973	0.823	B	0.43867	0.434	T	0.22417	-1.0217	10	0.36615	T	0.2	-4.4637	4.9673	0.14096	0.1685:0.6559:0.0:0.1755	.	532	O00534	VMA5A_HUMAN	I	532	ENSP00000407726:T532I;ENSP00000376504:T532I	ENSP00000376504:T532I	T	+	2	0	VWA5A	123512561	0.008000	0.16893	0.002000	0.10522	0.051000	0.14879	0.369000	0.20416	0.680000	0.31366	0.650000	0.86243	ACA		0.453	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		18	63	0	0	0	1	0	18	63				
CXorf57	55086	broad.mit.edu	37	X	105875859	105875859	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:105875859C>T	ENST00000372548.4	+	4	1093	c.984C>T	c.(982-984)atC>atT	p.I328I	CXorf57_ENST00000372544.2_Silent_p.I328I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	328							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAGAAATCTGCCTGAATC	0.299																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(982-984)atC>atT		chromosome X open reading frame 57							29.0	29.0	29.0					X																	105875859		2197	4292	6489	SO:0001819	synonymous_variant	55086							g.chrX:105875859C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.984C>T	X.37:g.105875859C>T						CXorf57_ENST00000372544.2_Silent_p.I328I	p.I328I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			4	1093	+			328					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.984C>T	CCDS14519.1																																																																																				0.299	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		13	18	0	0	0	1	0	13	18				
LOC101927359	101927359	broad.mit.edu	37	4	134047004	134047004	+	lincRNA	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:134047004delA	ENST00000505289.1	-	0	581																											CCAGCTACCCATGCTAGTCCC	0.552																																						ENST00000505289.1																			0																																																			101927359							g.chr4:134047004delA																													4.37:g.134047004delA														0	581	-									RNA	DEL	ENST00000505289.1	37																																																																																						0.552	RP11-9G1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364454.1			2	4						2	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176722361	176722361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:176722361delT	ENST00000439151.2	+	23	8037	c.7992delT	c.(7990-7992)tctfs	p.S2664fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.S2561fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2664					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTGCTGGTCTCTTGGAAGAG	0.537			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7990-7992)tcfs		nuclear receptor binding SET domain protein 1							67.0	71.0	70.0					5																	176722361		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176722361delT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7992delT	5.37:g.176722361delT	ENSP00000395929:p.Ser2664fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.S2561fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.S2395fs	p.S2664fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	8037	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2664					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.7992delT	CCDS4412.1																																																																																				0.537	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		26	38						26	38	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30090065	30090066	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:30090065_30090066insT	ENST00000449726.1	+	6	963_964	c.613_614insT	c.(613-615)atafs	p.I205fs	PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.I205fs|PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.I205fs|PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.I205fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	205					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACATCCTATTATACCAATTCAT	0.248																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(613-615)accfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8																																				SO:0001589	frameshift_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30090065_30090066insT	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.614dupT	7.37:g.30090066_30090066dupT	ENSP00000397947:p.Ile205fs					PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.T205fs	p.T205fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			6	963_964	+			205					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Frame_Shift_Ins	INS	ENST00000449726.1	37	c.613_614insT	CCDS56473.1																																																																																				0.248	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		10	22						10	22	---	---	---	---
NKX2-6	137814	broad.mit.edu	37	8	23560310	23560311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:23560310_23560311insA	ENST00000325017.3	-	2	558_559	c.559_560insT	c.(559-561)tgcfs	p.C187fs	NKX2-6_ENST00000418222.1_Frame_Shift_Ins_p.C105fs	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	187					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGTCTCTTGCATTTGTAGCGT	0.658																																						ENST00000325017.3																			0											c.(559-561)caafs		NK2 homeobox 6																																				SO:0001589	frameshift_variant	137814					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:23560310_23560311insA	CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.560dupT	8.37:g.23560311_23560311dupA	ENSP00000320089:p.Cys187fs					NKX2-6_ENST00000418222.1_Frame_Shift_Ins_p.Q105fs	p.Q187fs	NM_001136271.2	NP_001129743.2	C9JML6	C9JML6_HUMAN			2	558_559	-			105						Frame_Shift_Ins	INS	ENST00000325017.3	37	c.559_560insT																																																																																					0.658	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376057.4	NM_001136271		2	4						2	4	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37357250	37357250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:37357250delA	ENST00000336755.5	+	9	1723	c.1617delA	c.(1615-1617)agafs	p.R539fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTAAGCAGAGAAAAAAAAAGT	0.408																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1615-1617)agfs		zinc finger, CCHC domain containing 7							40.0	48.0	45.0					9																	37357250		2203	4299	6502	SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37357250delA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1617delA	9.37:g.37357250delA	ENSP00000337839:p.Arg539fs					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs	p.R539fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1723	+			539		R -> K (in dbSNP:rs1051465).			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Del	DEL	ENST00000336755.5	37	c.1617delA	CCDS6608.2																																																																																				0.408	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		7	41						7	41	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139409811	139409817	+	Frame_Shift_Del	DEL	GGCTGCT	GGCTGCT	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:139409811_139409817delGGCTGCT	ENST00000277541.6	-	12	2014_2020	c.1939_1945delAGCAGCC	c.(1939-1947)agcagccccfs	p.SSP647fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	647	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGTCGCAGGGGCTGCTGGCACAGTCA	0.676			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1939-1947)ccfs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409811_139409817delGGCTGCT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1939_1945delAGCAGCC	9.37:g.139409811_139409817delGGCTGCT	ENSP00000277541:p.Ser647fs	HNSCC(8;0.001)					p.SSP647fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	12	2014_2020	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	647			EGF-like 17; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.1939_1945delAGCAGCC	CCDS43905.1																																																																																				0.676	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		29	43						29	43	---	---	---	---
SPOCK2	9806	broad.mit.edu	37	10	73826746	73826756	+	Frame_Shift_Del	DEL	CAGACCTCGTA	CAGACCTCGTA	-	rs139142132		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:73826746_73826756delCAGACCTCGTA	ENST00000373109.2	-	8	1276_1286	c.832_842delTACGAGGTCTG	c.(832-843)tacgaggtctgcfs	p.YEVC278fs	SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	278					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGACGGATGCAGACCTCGTACTTGTCCAGG	0.583																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(832-843)cfs		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2																																				SO:0001589	frameshift_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826746_73826756delCAGACCTCGTA	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.832_842delTACGAGGTCTG	10.37:g.73826746_73826756delCAGACCTCGTA	ENSP00000362201:p.Tyr278fs					SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000460053.1_5'UTR	p.YEVC278fs	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			8	1276_1286	-			278					C9J767|Q6UW87	Frame_Shift_Del	DEL	ENST00000373109.2	37	c.832_842delTACGAGGTCTG	CCDS7313.1																																																																																				0.583	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			14	83						14	83	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104874022	104874024	+	In_Frame_Del	DEL	CAG	CAG	-	rs148935912		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:104874022_104874024delCAG	ENST00000260315.3	-	4	519_521	c.520_522delCTG	c.(520-522)ctgdel	p.L174del	CASP5_ENST00000531367.1_In_Frame_Del_p.L32del|CASP5_ENST00000418434.1_In_Frame_Del_p.L32del|CASP5_ENST00000526056.1_In_Frame_Del_p.L187del|CASP5_ENST00000393141.2_In_Frame_Del_p.L187del|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_In_Frame_Del_p.L116del			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	174					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTTTTACACAGTCTCAGGAAT	0.389																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(559-561)del		caspase 5, apoptosis-related cysteine peptidase																																				SO:0001651	inframe_deletion	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104874022_104874024delCAG		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.520_522delCTG	11.37:g.104874022_104874024delCAG	ENSP00000260315:p.Leu174del					CASP5_ENST00000418434.1_In_Frame_Del_p.L32del|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000260315.3_In_Frame_Del_p.L174del|CASP5_ENST00000444749.2_In_Frame_Del_p.L116del|CASP5_ENST00000531367.1_In_Frame_Del_p.L32del|CASP5_ENST00000526056.1_In_Frame_Del_p.L187del	p.L187del	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	4	590_592	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	174					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	In_Frame_Del	DEL	ENST00000260315.3	37	c.559_561delCTG	CCDS8328.2																																																																																				0.389	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		34	81						34	81	---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123340536	123340536	+	Frame_Shift_Del	DEL	T	T	-	rs142842850		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:123340536delT	ENST00000253083.4	+	14	1263	c.1138delT	c.(1138-1140)tacfs	p.Y380fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	380					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCCCAGCGGTACATCGCGCA	0.667																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1138-1140)acfs		huntingtin interacting protein 1 related							36.0	36.0	36.0					12																	123340536		2196	4292	6488	SO:0001589	frameshift_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123340536delT	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1138delT	12.37:g.123340536delT	ENSP00000253083:p.Tyr380fs						p.Y380fs	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	14	1263	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		380					A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Del	DEL	ENST00000253083.4	37	c.1138delT	CCDS31922.1																																																																																				0.667	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		2	4						2	4	---	---	---	---
SMAD9	4093	broad.mit.edu	37	13	37427662	37427662	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:37427662delA	ENST00000399275.2	-	5	1293	c.1154delT	c.(1153-1155)ttcfs	p.F385fs	SMAD9_ENST00000379826.4_Frame_Shift_Del_p.F385fs|SMAD9_ENST00000350148.5_Frame_Shift_Del_p.F348fs			O15198	SMAD9_HUMAN	SMAD family member 9	385	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGGTTGTTGAAGACCTTGAG	0.537																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(1153-1155)tcfs		SMAD family member 9							131.0	88.0	103.0					13																	37427662		2203	4300	6503	SO:0001589	frameshift_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37427662delA		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1154delT	13.37:g.37427662delA	ENSP00000382216:p.Phe385fs					SMAD9_ENST00000399275.2_Frame_Shift_Del_p.F385fs|SMAD9_ENST00000350148.5_Frame_Shift_Del_p.F348fs	p.F385fs	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	6	1496	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	385			MH2.		A2A2Y6|O14989|Q5TBA1	Frame_Shift_Del	DEL	ENST00000399275.2	37	c.1154delT	CCDS45032.1																																																																																				0.537	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		12	51						12	51	---	---	---	---
NRDE2	55051	broad.mit.edu	37	14	90769458	90769459	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:90769458_90769459insA	ENST00000354366.3	-	6	1248_1249	c.1016_1017insT	c.(1015-1017)atgfs	p.M339fs	NRDE2_ENST00000357904.3_Frame_Shift_Ins_p.M108fs	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	339																	CAGGACTTTTCATGACCTCGTC	0.48																																						ENST00000354366.3																			0											c.(1015-1017)aaafs		NRDE-2, necessary for RNA interference, domain containing																																				SO:0001589	frameshift_variant	55051							g.chr14:90769458_90769459insA	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1017dupT	14.37:g.90769459_90769459dupA	ENSP00000346335:p.Met339fs					NRDE2_ENST00000357904.3_Frame_Shift_Ins_p.K108fs	p.K339fs	NM_017970.3	NP_060440.2					6	1248_1249	-								B4DH71|Q4G0A7|Q9NWH6	Frame_Shift_Ins	INS	ENST00000354366.3	37	c.1016_1017insT	CCDS9890.1																																																																																				0.480	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		9	29						9	29	---	---	---	---
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	Intron	INS	-	-	CCG	rs71408216|rs374901734		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(46-48)gag>gCGGag		G1 to S phase transition 1																																				SO:0001627	intron_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:12009530_12009531insCCG	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG						GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA|AC007216.1_ENST00000583357.1_RNA	p.15_16insA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			1	246_247	-			42					J3KQG6|Q96GF2	In_Frame_Ins	INS	ENST00000420576.2	37	c.47_48insCGG	CCDS45414.1																																																																																				0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421514.1	NM_002094		4	2						4	2	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20376540	20376543	+	RNA	DEL	TTTT	TTTT	-	rs35523746	byFrequency	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:20376540_20376543delTTTT	ENST00000593655.1	-	0	199																											ACCTCTCAAAtttttttttttttt	0.426																																						ENST00000593655.1																			0																																																			0							g.chr19:20376540_20376543delTTTT																													19.37:g.20376548_20376551delTTTT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.426	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			2	4						2	4	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39340343	39340344	+	In_Frame_Ins	INS	-	-	CCG			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:39340343_39340344insCCG	ENST00000221419.5	-	1	629_630	c.263_264insCGG	c.(262-264)ggt>ggCGGt	p.88_88G>GG	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	88	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCCTCACCccaccgccgccgcc	0.718																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(262-264)ggg>gCGGgg		heterogeneous nuclear ribonucleoprotein L																																				SO:0001652	inframe_insertion	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39340343_39340344insCCG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.261_263dupCGG	19.37:g.39340350_39340352dupCCG	ENSP00000221419:p.Gly89dup					HNRNPL_ENST00000600873.1_Intron	p.87_88insA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		1	629_630	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		87			Gly-rich.		A6ND69|A6NIT8|Q9H3P3	In_Frame_Ins	INS	ENST00000221419.5	37	c.263_264insCGG	CCDS33015.1																																																																																				0.718	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			3	5						3	5	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158428	154158428	+	Frame_Shift_Del	DEL	T	T	-	rs387906450		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:154158428delT	ENST00000360256.4	-	14	3837	c.3637delA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD930955	F8	D		c.(3637-3639)ttfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						26.0	25.0	25.0					X																	154158428		2203	4294	6497	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158428delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3637delA	X.37:g.154158428delT	ENSP00000353393:p.Ile1213fs						p.I1213fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3837	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1213			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.3637delA	CCDS35457.1																																																																																				0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			14	20						14	20	---	---	---	---
