#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
LHFPL3	375612	broad.mit.edu	37	7	103969248	103969248	+	Silent	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	7						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(19-21)gcT>gcC		lipoma HMGIC fusion partner-like 3							10.0	14.0	13.0					7																	103969248		1941	4076	6017	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:103969248T>C	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.21T>C	7.37:g.103969248T>C						LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A	p.A7A			Q86UP9	LHPL3_HUMAN			1	145	+			0					A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37	c.21T>C																																																																																					0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000		3	19	0	0	0	1	0	3	19				
TAB3	257397	broad.mit.edu	37	X	30873680	30873680	+	Splice_Site	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:30873680C>A	ENST00000378933.1	-	3	280		c.e3-1		TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Splice_Site	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTTGTTATTCTAGGGGAGAA	0.383																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.e3-1		TGF-beta activated kinase 1/MAP3K7 binding protein 3							26.0	26.0	26.0					X																	30873680		2174	4277	6451	SO:0001630	splice_region_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873680C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.103-1G>T	X.37:g.30873680C>A						TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378932.2_Splice_Site		NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	280	-								A6NDD9|Q6VQR0	Splice_Site	SNP	ENST00000378933.1	37		CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044097	0.55110	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5384	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAB3	30783601	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.445000	0.80570	2.407000	0.81776	0.600000	0.82982	.		0.383	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	Intron	3	32	1	0	1	1	1	3	32				
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)gCc>gAc																																						SO:0001583	missense	284802							g.chr20:29628246C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.248C>A	20.37:g.29628246C>A	ENSP00000278882:p.Ala83Asp					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D	p.A83D							6	628	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.248C>A		.	.	.	.	.	.	.	.	.	.	c	16.75	3.210388	0.58343	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.63129	0.2485	.	.	.	0.54753	D	0.999987	P;D	0.63880	0.839;0.993	P;D	0.70227	0.834;0.968	T	0.65611	-0.6126	9	0.52906	T	0.07	.	10.2211	0.43198	0.0:1.0:0.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	83;88;83	ENSP00000408863:A88D	ENSP00000278882:A83D	A	+	2	0	FRG1B	28241907	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.082000	0.64450	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	95	1	0	8.12818e-05	1	9.11943e-05	5	95				
GALNTL6	442117	broad.mit.edu	37	4	173942682	173942682	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr4:173942682G>A	ENST00000506823.1	+	12	2201	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	515	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTGCATACCCGGAAATTCTGC	0.483																																						ENST00000506823.1																			1	Unknown(1)	p.?(1)	breast(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1543-1545)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							158.0	147.0	151.0					4																	173942682		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173942682G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1544G>A	4.37:g.173942682G>A	ENSP00000423313:p.Arg515Gln					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q	p.R515Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			12	2201	+			515			Ricin B-type lectin.		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1544G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023883	0.54683	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.76839	-1.05;-1.05	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.198625	0.35096	N	0.003452	D	0.82609	0.5074	M	0.78637	2.42	0.50467	D	0.999875	P	0.52170	0.951	P	0.47075	0.536	T	0.81024	-0.1120	10	0.30078	T	0.28	.	20.0817	0.97778	0.0:0.0:1.0:0.0	.	515	Q49A17	GLTL6_HUMAN	Q	515;498	ENSP00000423313:R515Q;ENSP00000423827:R498Q	ENSP00000423313:R515Q	R	+	2	0	GALNTL6	174179257	0.998000	0.40836	0.801000	0.32222	0.038000	0.13279	3.555000	0.53727	2.743000	0.94032	0.650000	0.86243	CGG		0.483	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	63	0	0	0	1	0	15	63				
PER3	8863	broad.mit.edu	37	1	7886649	7886649	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:7886649G>A	ENST00000361923.2	+	16	2218	c.2043G>A	c.(2041-2043)gcG>gcA	p.A681A	PER3_ENST00000377532.3_Silent_p.A689A|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	681	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTCAGCGCACACCCAGA	0.507																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2065-2067)gcG>gcA		period circadian clock 3							62.0	56.0	58.0					1																	7886649		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7886649G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2043G>A	1.37:g.7886649G>A						PER3_ENST00000361923.2_Silent_p.A681A|RP3-467L1.4_ENST00000451646.1_RNA	p.A689A			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	16	2291	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	681			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.2067G>A	CCDS89.1																																																																																				0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		3	39	0	0	0	1	0	3	39				
GPATCH8	23131	broad.mit.edu	37	17	42501775	42501775	+	Missense_Mutation	SNP	T	T	C	rs558350981		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:42501775T>C	ENST00000591680.1	-	6	464	c.434A>G	c.(433-435)tAt>tGt	p.Y145C	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.Y67C	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	145							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGTTTCTGATATTGCTTATC	0.393																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(199-201)tAt>tGt		G patch domain containing 8							157.0	144.0	149.0					17																	42501775		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42501775T>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.434A>G	17.37:g.42501775T>C	ENSP00000467556:p.Tyr145Cys					GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.Y145C	p.Y67C			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	482	-		Prostate(33;0.0181)	145			G-patch.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.200A>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643521	0.67244	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.46063	0.88	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73678	-0.3907	10	0.87932	D	0	-11.8289	15.5078	0.75753	0.0:0.0:0.0:1.0	.	145	Q9UKJ3	GPTC8_HUMAN	C	145;67	ENSP00000395016:Y67C	ENSP00000335486:Y145C	Y	-	2	0	GPATCH8	39857301	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.040000	0.89188	2.069000	0.61940	0.533000	0.62120	TAT		0.393	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	70	0	0	0	1	0	7	70				
PRAMEF13	400736	broad.mit.edu	37	1	13448307	13448307	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:13448307A>G	ENST00000376132.3	-	4	1270	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCATAGACATACAATTT	0.557																																						ENST00000376132.3																			0				breast(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(1168-1170)Tct>Cct		PRAME family member 13							64.0	62.0	63.0					1																	13448307		2203	4296	6499	SO:0001583	missense	400736							g.chr1:13448307A>G			1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1168T>C	1.37:g.13448307A>G	ENSP00000365302:p.Ser390Pro						p.S390P	NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1270	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	390						Missense_Mutation	SNP	ENST00000376132.3	37	c.1168T>C	CCDS41257.1	.	.	.	.	.	.	.	.	.	.	A	9.984	1.228910	0.22542	.	.	ENSG00000204495	ENST00000376132	T	0.12255	2.7	1.2	-0.0985	0.13628	.	0.067349	0.64402	N	0.000012	T	0.34279	0.0892	M	0.90019	3.08	0.09310	N	1	D;D	0.69078	0.965;0.997	P;D	0.75484	0.819;0.986	T	0.13442	-1.0509	10	0.87932	D	0	.	3.2594	0.06844	0.6288:0.0:0.0:0.3712	.	390;390	Q5VWM6;A6NFR9	PRA13_HUMAN;.	P	390	ENSP00000365302:S390P	ENSP00000365302:S390P	S	-	1	0	PRAMEF13	13320894	0.137000	0.22531	0.001000	0.08648	0.001000	0.01503	1.247000	0.32815	-0.056000	0.13221	-1.060000	0.02296	TCT		0.557	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688		13	103	0	0	0	1	0	13	103				
EPAS1	2034	broad.mit.edu	37	2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1588-1590)gCa>gTa		endothelial PAS domain protein 1							86.0	94.0	91.0					2																	46607400		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607400C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1589C>T	2.37:g.46607400C>T	ENSP00000263734:p.Ala530Val						p.A530V	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2099	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	530			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1589C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420544	0.96111	.	.	ENSG00000116016	ENST00000263734	D	0.98150	-4.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	530	Q99814	EPAS1_HUMAN	V	530	ENSP00000263734:A530V	ENSP00000263734:A530V	A	+	2	0	EPAS1	46460904	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	GCA		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		45	42	0	0	0	1	0	45	42				
C20orf96	140680	broad.mit.edu	37	20	257758	257758	+	Missense_Mutation	SNP	C	C	T	rs550866771		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:257758C>T	ENST00000360321.2	-	8	890	c.752G>A	c.(751-753)cGc>cAc	p.R251H	C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H|C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCTTTCTGCGCATCTCACC	0.557																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(751-753)cGc>cAc		chromosome 20 open reading frame 96							131.0	146.0	141.0					20																	257758		2203	4300	6503	SO:0001583	missense	140680							g.chr20:257758C>T	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.752G>A	20.37:g.257758C>T	ENSP00000353470:p.Arg251His					C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H|C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H	p.R251H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	890	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	251					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.752G>A	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799420	0.50208	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.48201	0.82;0.82;0.82	4.95	4.0	0.46444	.	0.623460	0.15923	N	0.238013	T	0.58722	0.2142	L	0.55481	1.735	0.22754	N	0.998773	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.938;0.938;0.966;0.938	T	0.45891	-0.9230	10	0.30854	T	0.27	-13.7279	9.0336	0.36273	0.0:0.8965:0.0:0.1034	.	193;216;251;216	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	H	216;251;193	ENSP00000371806:R216H;ENSP00000353470:R251H;ENSP00000383128:R193H	ENSP00000353470:R251H	R	-	2	0	C20orf96	205758	0.914000	0.31030	0.461000	0.27105	0.633000	0.38033	2.163000	0.42377	1.084000	0.41184	0.313000	0.20887	CGC		0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		4	234	0	0	0	1	0	4	234				
FBXW12	285231	broad.mit.edu	37	3	48419816	48419816	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:48419816A>G	ENST00000296438.5	+	6	601	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	139										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTACCATGATCTGGTCAAG	0.458																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)Atc>Gtc		F-box and WD repeat domain containing 12							103.0	86.0	92.0					3																	48419816		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48419816A>G	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.415A>G	3.37:g.48419816A>G	ENSP00000296438:p.Ile139Val					FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|FBXW12_ENST00000415155.1_Intron	p.I139V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	601	+			139					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.415A>G	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794205	0.31777	.	.	ENSG00000164049	ENST00000296438;ENST00000445170	T;T	0.28454	1.61;1.61	4.61	-1.14	0.09741	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.684620	0.14171	N	0.336704	T	0.19248	0.0462	L	0.46157	1.445	0.09310	N	1	B;B	0.26002	0.123;0.139	B;B	0.25759	0.063;0.043	T	0.20174	-1.0283	10	0.25106	T	0.35	-23.44	2.0721	0.03616	0.4486:0.3113:0.0896:0.1505	.	120;139	E9PG36;Q6X9E4	.;FBW12_HUMAN	V	139;120	ENSP00000296438:I139V;ENSP00000406139:I120V	ENSP00000296438:I139V	I	+	1	0	FBXW12	48394820	0.826000	0.29277	0.011000	0.14972	0.013000	0.08279	1.200000	0.32247	-0.246000	0.09611	-0.327000	0.08410	ATC		0.458	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		4	37	0	0	0	1	0	4	37				
PARN	5073	broad.mit.edu	37	16	14676088	14676088	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr16:14676088T>C	ENST00000437198.2	-	17	1283	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	PARN_ENST00000341484.7_Missense_Mutation_p.Y320C|PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	381					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTAGGCATCGTAGCCTGCCTC	0.448																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1141-1143)tAc>tGc		poly(A)-specific ribonuclease							224.0	218.0	220.0					16																	14676088		2001	4171	6172	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14676088T>C	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1142A>G	16.37:g.14676088T>C	ENSP00000387911:p.Tyr381Cys					PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C|PARN_ENST00000341484.7_Missense_Mutation_p.Y320C	p.Y381C	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			17	1283	-			381					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.1142A>G	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369447	0.82463	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.81	5.81	0.92471	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64976	-0.6280	10	0.87932	D	0	-16.6233	15.002	0.71479	0.0:0.0:0.0:1.0	.	206;335;381	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	C	381;320;335;206	ENSP00000387911:Y381C;ENSP00000345456:Y320C;ENSP00000410525:Y335C;ENSP00000444381:Y206C	ENSP00000345456:Y320C	Y	-	2	0	PARN	14583589	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.210000	0.71456	0.533000	0.62120	TAC		0.448	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		12	166	0	0	0	1	0	12	166				
CYTH2	9266	broad.mit.edu	37	19	48976617	48976617	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:48976617A>G	ENST00000452733.2	+	5	892	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CYTH2_ENST00000427476.1_Missense_Mutation_p.N139S			Q99418	CYH2_HUMAN	cytohesin 2	139	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCGACCTCAATCTGGTGCAG	0.517																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(415-417)aAt>aGt		cytohesin 2							103.0	85.0	91.0					19																	48976617		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48976617A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.416A>G	19.37:g.48976617A>G	ENSP00000408236:p.Asn139Ser					CYTH2_ENST00000452733.2_Missense_Mutation_p.N139S	p.N139S	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			5	716	+			139			SEC7.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.416A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603038	0.66445	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.51071	0.72;0.72;0.72	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	N	0.25647	0.755	0.58432	D	0.999993	B	0.19935	0.04	B	0.16289	0.015	T	0.11542	-1.0583	10	0.30078	T	0.28	.	11.8884	0.52615	1.0:0.0:0.0:0.0	.	139	Q99418-2	.	S	139;139;161	ENSP00000408236:N139S;ENSP00000391648:N139S;ENSP00000314566:N161S	ENSP00000314566:N161S	N	+	2	0	CYTH2	53668429	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	8.882000	0.92420	1.978000	0.57642	0.379000	0.24179	AAT		0.517	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		4	56	0	0	0	1	0	4	56				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	60	1	0	0.014758	1	0.0154288	5	60				
S1PR1	1901	broad.mit.edu	37	1	101705533	101705533	+	Silent	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:101705533C>T	ENST00000305352.6	+	2	1368	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	331					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.C331C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCAAGTGCCCGAGCGGAG	0.562																																						ENST00000305352.6																			1	Substitution - coding silent(1)	p.C331C(1)	urinary_tract(1)	NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(991-993)tgC>tgT		sphingosine-1-phosphate receptor 1							130.0	135.0	133.0					1																	101705533		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705533C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.993C>T	1.37:g.101705533C>T							p.C331C	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1368	+			331					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.993C>T	CCDS777.1																																																																																				0.562	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		5	162	0	0	0	1	0	5	162				
MYH9	4627	broad.mit.edu	37	22	36690155	36690155	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr22:36690155T>C	ENST00000216181.5	-	28	4050	c.3820A>G	c.(3820-3822)Aag>Gag	p.K1274E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1274					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGGTGACCTTGTCGGCCAGC	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3820-3822)Aag>Gag		myosin, heavy chain 9, non-muscle							67.0	64.0	65.0					22																	36690155		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36690155T>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3820A>G	22.37:g.36690155T>C	ENSP00000216181:p.Lys1274Glu						p.K1274E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			28	4050	-			1274					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3820A>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987273	0.74589	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.98	4.98	0.66077	Myosin tail (1);	0.102350	0.64402	D	0.000004	D	0.83464	0.5260	M	0.73962	2.25	0.80722	D	1	B	0.20780	0.048	B	0.41088	0.347	D	0.83669	0.0165	10	0.87932	D	0	.	14.978	0.71289	0.0:0.0:0.0:1.0	.	1274	P35579	MYH9_HUMAN	E	1274	ENSP00000216181:K1274E	ENSP00000216181:K1274E	K	-	1	0	MYH9	35020101	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.948000	0.63590	1.988000	0.58038	0.459000	0.35465	AAG		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		17	29	0	0	0	1	0	17	29				
DNAH5	1767	broad.mit.edu	37	5	13721122	13721122	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr5:13721122T>C	ENST00000265104.4	-	71	12370	c.12266A>G	c.(12265-12267)cAg>cGg	p.Q4089R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4089	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCCATGGTCTGCTGCAAGAG	0.428									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12265-12267)cAg>cGg		dynein, axonemal, heavy chain 5							75.0	78.0	77.0					5																	13721122		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721122T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12266A>G	5.37:g.13721122T>C	ENSP00000265104:p.Gln4089Arg						p.Q4089R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			71	12370	-	Lung NSC(4;0.00476)		4089			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12266A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780367	0.16120	.	.	ENSG00000039139	ENST00000265104	T	0.08546	3.08	5.18	5.18	0.71444	Dynein heavy chain (1);	0.057945	0.64402	D	0.000001	T	0.10594	0.0259	L	0.46947	1.48	0.46298	D	0.998978	B	0.15473	0.013	B	0.28784	0.094	T	0.14727	-1.0462	10	0.17832	T	0.49	.	15.3168	0.74085	0.0:0.0:0.0:1.0	.	4089	Q8TE73	DYH5_HUMAN	R	4089	ENSP00000265104:Q4089R	ENSP00000265104:Q4089R	Q	-	2	0	DNAH5	13774122	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.777000	0.62361	2.075000	0.62263	0.455000	0.32223	CAG		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	69	0	0	0	1	0	5	69				
DFNA5	1687	broad.mit.edu	37	7	24784270	24784270	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:24784270G>A	ENST00000342947.3	-	3	740	c.315C>T	c.(313-315)ggC>ggT	p.G105G	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGT	0.557																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)ggC>ggT		deafness, autosomal dominant 5							87.0	79.0	82.0					7																	24784270		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24784270G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315C>T	7.37:g.24784270G>A						DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G|DFNA5_ENST00000545231.1_5'UTR	p.G105G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			3	740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.315C>T	CCDS5389.1																																																																																				0.557	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		5	71	0	0	0	1	0	5	71				
GBA3	57733	broad.mit.edu	37	4	22729264	22729264	+	RNA	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr4:22729264G>A	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTGGACAGTGGTGAGTTATC	0.403																																						ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							170.0	175.0	174.0					4																	22729264		2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729264G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729264G>A						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	61	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.403	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			6	185	0	0	0	1	0	6	185				
CEP192	55125	broad.mit.edu	37	18	13116474	13116474	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr18:13116474T>C	ENST00000325971.8	+	41	7193	c.5600T>C	c.(5599-5601)cTg>cCg	p.L1867P	CEP192_ENST00000506447.1_Missense_Mutation_p.L2463P|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1867					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAGTCAATCTGCGAAATAAT	0.413																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7387-7389)cTg>cCg		centrosomal protein 192kDa							89.0	83.0	85.0					18																	13116474		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13116474T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5600T>C	18.37:g.13116474T>C	ENSP00000317156:p.Leu1867Pro					CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1867P|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P	p.L2463P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			43	7468	+			2058					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7388T>C		.	.	.	.	.	.	.	.	.	.	T	18.71	3.682374	0.68157	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08720	3.06;3.07;3.07	4.98	4.98	0.66077	.	0.172755	0.40908	D	0.000999	T	0.28001	0.0690	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.76071	0.952;0.977;0.939;0.987	T	0.01670	-1.1299	10	0.87932	D	0	-8.2332	14.6136	0.68531	0.0:0.0:0.0:1.0	.	1988;2463;467;1066	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2463;1867;1867;1988;467	ENSP00000427550:L2463P;ENSP00000317156:L1867P;ENSP00000389190:L1988P	ENSP00000317156:L1867P	L	+	2	0	CEP192	13106474	1.000000	0.71417	0.984000	0.44739	0.623000	0.37688	5.249000	0.65427	2.009000	0.58944	0.383000	0.25322	CTG		0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	44	0	0	0	1	0	8	44				
SLC10A5	347051	broad.mit.edu	37	8	82606174	82606174	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:82606174G>A	ENST00000518568.1	-	1	2235	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	345						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACCCAAAGCAGGAACTAA	0.368																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(1033-1035)gCt>gTt		solute carrier family 10, member 5							66.0	66.0	66.0					8																	82606174		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606174G>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1034C>T	8.37:g.82606174G>A	ENSP00000428612:p.Ala345Val						p.A345V	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	2235	-			345					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.1034C>T	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	8.456	0.854185	0.17106	.	.	ENSG00000253598	ENST00000518568	T	0.07908	3.15	5.51	-0.00473	0.14020	.	1.312740	0.05213	N	0.507090	T	0.04952	0.0133	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44065	-0.9352	10	0.14656	T	0.56	-0.0284	9.5015	0.39019	0.5412:0.0:0.4588:0.0	.	345	Q5PT55	NTCP5_HUMAN	V	345	ENSP00000428612:A345V	ENSP00000428612:A345V	A	-	2	0	SLC10A5	82768729	0.000000	0.05858	0.401000	0.26359	0.998000	0.95712	0.381000	0.20619	0.004000	0.14682	0.591000	0.81541	GCT		0.368	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		3	43	0	0	0	1	0	3	43				
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299.0	234.0	256.0		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		3	27	0	0	0	1	0	3	27				
SPECC1	92521	broad.mit.edu	37	17	20224859	20224859	+	IGR	SNP	G	G	A	rs556826153	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:20224859G>A	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|AC004702.2_ENST00000580225.1_lincRNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CACGATGTCCGCCTGGAAGAT	0.642																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	348254							g.chr17:20224859G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224859G>A						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	3.520	-0.097871	0.07010	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.364	0.364	0.16124	.	.	.	.	.	T	0.45276	0.1334	.	.	.	0.23855	N	0.996652	.	.	.	.	.	.	T	0.55250	-0.8170	3	0.41790	T	0.15	.	.	.	.	.	.	.	.	H	77	.	ENSP00000343605:R77H	R	+	2	0	CCDC144C	20165451	0.122000	0.22280	0.006000	0.13384	0.006000	0.05464	0.830000	0.27462	0.406000	0.25560	0.407000	0.27541	CGC		0.642	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		57	152	0	0	0	1	0	57	152				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			145241							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	57	0	0	0	1	0	4	57				
ALOX12	239	broad.mit.edu	37	17	6902684	6902684	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:6902684G>A	ENST00000251535.6	+	6	759	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	236	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCTCAATGGTGCCAACCCCAT	0.547																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(706-708)Gcc>Acc		arachidonate 12-lipoxygenase							181.0	141.0	155.0					17																	6902684		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902684G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.706G>A	17.37:g.6902684G>A	ENSP00000251535:p.Ala236Thr					AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA	p.A236T	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			6	759	+			236			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.706G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233124	0.39498	.	.	ENSG00000108839	ENST00000251535	T	0.77358	-1.09	5.13	-1.78	0.07957	Lipoxygenase, C-terminal (3);	0.556579	0.20191	N	0.097307	T	0.68824	0.3043	M	0.73962	2.25	0.19300	N	0.999972	B	0.20052	0.041	B	0.22152	0.038	T	0.55101	-0.8193	10	0.29301	T	0.29	-2.565	3.7542	0.08579	0.3874:0.0:0.3479:0.2647	.	236	P18054	LOX12_HUMAN	T	236	ENSP00000251535:A236T	ENSP00000251535:A236T	A	+	1	0	ALOX12	6843408	0.000000	0.05858	0.059000	0.19551	0.904000	0.53231	0.020000	0.13466	-0.304000	0.08843	-0.152000	0.13540	GCC		0.547	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			4	56	0	0	0	1	0	4	56				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		3	42	0	0	0	1	0	3	42				
GNE	10020	broad.mit.edu	37	9	36249220	36249220	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr9:36249220C>T	ENST00000539815.1	-	1	173	c.133G>A	c.(133-135)Gta>Ata	p.V45I	GNE_ENST00000377902.5_Missense_Mutation_p.V45I|GNE_ENST00000539208.1_Intron|GNE_ENST00000396594.3_Missense_Mutation_p.V76I|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_Missense_Mutation_p.V45I			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	45					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GAGCCAAGTACCACAACATCA	0.413																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)Gta>Ata		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							163.0	136.0	145.0					9																	36249220		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36249220C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.133G>A	9.37:g.36249220C>T	ENSP00000439155:p.Val45Ile					GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.V45I|GNE_ENST00000447283.2_Missense_Mutation_p.V45I|GNE_ENST00000377902.5_Missense_Mutation_p.V45I	p.V76I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		2	337	-			45					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.226G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486396	0.84854	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.79475	2.455	0.53005	D	0.999967	P;D;B	0.61080	0.865;0.989;0.076	P;D;B	0.64321	0.618;0.924;0.085	D	0.98333	1.0534	10	0.62326	D	0.03	-15.2167	11.4116	0.49929	0.0:0.9123:0.0:0.0876	.	76;45;45	Q9Y223-2;Q9Y223;A7UNU7	.;GLCNE_HUMAN;.	I	45;76;45;45	ENSP00000367134:V45I;ENSP00000379839:V76I;ENSP00000439155:V45I;ENSP00000414760:V45I	ENSP00000367134:V45I	V	-	1	0	GNE	36239220	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.466000	0.66731	2.684000	0.91462	0.561000	0.74099	GTA		0.413	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		7	77	0	0	0	1	0	7	77				
AZIN1	51582	broad.mit.edu	37	8	103855864	103855864	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:103855864T>G	ENST00000337198.5	-	3	1180	c.17A>C	c.(16-18)gAt>gCt	p.D6A	AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	6					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			GTTTGCATCATCAATAAATCC	0.423																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(16-18)gAt>gCt		antizyme inhibitor 1							152.0	137.0	142.0					8																	103855864		2203	4300	6503	SO:0001583	missense	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103855864T>G	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.17A>C	8.37:g.103855864T>G	ENSP00000337180:p.Asp6Ala					AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR	p.D6A	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		3	1180	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		6					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.17A>C	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983056	0.74474	.	.	ENSG00000155096	ENST00000337198;ENST00000347770;ENST00000520402;ENST00000518353	T;T	0.43688	0.94;0.94	6.07	6.07	0.98685	.	0.143965	0.64402	D	0.000008	T	0.40956	0.1138	L	0.48642	1.525	0.54753	D	0.999989	B	0.18968	0.032	B	0.26094	0.066	T	0.16012	-1.0417	10	0.27082	T	0.32	-13.0333	16.6407	0.85098	0.0:0.0:0.0:1.0	.	6	O14977	AZIN1_HUMAN	A	6	ENSP00000337180:D6A;ENSP00000321507:D6A	ENSP00000337180:D6A	D	-	2	0	AZIN1	103925040	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	GAT		0.423	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			11	50	0	0	0	1	0	11	50				
PIGS	94005	broad.mit.edu	37	17	26882066	26882066	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:26882066T>C	ENST00000308360.7	-	11	1570	c.1195A>G	c.(1195-1197)Att>Gtt	p.I399V	PIGS_ENST00000395346.2_Missense_Mutation_p.I391V|PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|UNC119_ENST00000335765.4_5'Flank|UNC119_ENST00000301032.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	399					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCTGAGCAATCCCAAAGAGC	0.542																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1195-1197)Att>Gtt		phosphatidylinositol glycan anchor biosynthesis, class S							50.0	46.0	47.0					17																	26882066		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26882066T>C		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1195A>G	17.37:g.26882066T>C	ENSP00000309430:p.Ile399Val					PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|PIGS_ENST00000395346.2_Missense_Mutation_p.I391V	p.I399V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			11	1570	-	Lung NSC(42;0.00431)		399					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1195A>G	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710999	0.30322	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.43294	0.95;0.95;0.95	5.42	5.42	0.78866	.	0.110954	0.64402	D	0.000005	T	0.30510	0.0767	L	0.32530	0.975	0.42244	D	0.991947	B;B	0.30406	0.278;0.235	B;B	0.31390	0.129;0.079	T	0.15378	-1.0439	10	0.34782	T	0.22	-10.616	7.8497	0.29446	0.0:0.0731:0.1396:0.7874	.	399;391	Q96S52;Q96S52-2	PIGS_HUMAN;.	V	391;399;338	ENSP00000378755:I391V;ENSP00000309430:I399V;ENSP00000438447:I338V	ENSP00000309430:I399V	I	-	1	0	PIGS	23906193	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.294000	0.43567	2.053000	0.61076	0.379000	0.24179	ATT		0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		5	9	0	0	0	1	0	5	9				
LSM14B	149986	broad.mit.edu	37	20	60701439	60701439	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60701439G>T	ENST00000279068.6	+	3	531	c.371G>T	c.(370-372)gGc>gTc	p.G124V	LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V|LSM14B_ENST00000253001.4_Missense_Mutation_p.G124V	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	124					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCCCTACGGCCCGCTGGCG	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(370-372)gGc>gTc		LSM14B, SCD6 homolog B (S. cerevisiae)							43.0	45.0	44.0					20																	60701439		2035	4174	6209	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701439G>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.371G>T	20.37:g.60701439G>T	ENSP00000279068:p.Gly124Val					LSM14B_ENST00000279068.6_Missense_Mutation_p.G124V|LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V	p.G124V			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	577	+	Breast(26;3.97e-09)		124					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.371G>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752917	0.49362	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.48522	0.91;0.83;0.81;0.88	5.42	3.09	0.35607	.	0.166091	0.64402	D	0.000003	T	0.29684	0.0741	N	0.08118	0	0.58432	D	0.999999	B;P;B;B;P	0.39216	0.177;0.664;0.026;0.418;0.573	B;B;B;B;B	0.39419	0.049;0.299;0.008;0.157;0.143	T	0.30650	-0.9971	10	0.56958	D	0.05	.	13.2551	0.60074	0.1525:0.0:0.8475:0.0	.	5;5;124;150;124	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	V	124;124;124;5;150;124;5;5	ENSP00000279068:G124V;ENSP00000253001:G124V;ENSP00000383172:G150V;ENSP00000355209:G5V	ENSP00000253001:G124V	G	+	2	0	LSM14B	60134834	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.233000	0.58651	1.268000	0.44264	0.511000	0.50034	GGC		0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	33	1	0	0.00307968	1	0.00337298	8	33				
PCLO	27445	broad.mit.edu	37	7	82389988	82389988	+	Silent	SNP	T	T	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:82389988T>C	ENST00000333891.9	-	24	15592	c.15255A>G	c.(15253-15255)cgA>cgG	p.R5085R		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAGACTGAATCGAAAAGTTT	0.318																																						ENST00000333891.8																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(15253-15255)cgA>cgG		piccolo presynaptic cytomatrix protein							133.0	131.0	132.0					7																	82389988		1828	4070	5898	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82389988T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15255A>G	7.37:g.82389988T>C							p.R5085R	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			24	15592	-			5008						Silent	SNP	ENST00000333891.9	37	c.15255A>G	CCDS47630.1																																																																																				0.318	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	32	0	0	0	1	0	30	32				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	44	0	0	0	1	0	3	44				
CNTN3	5067	broad.mit.edu	37	3	74383970	74383970	+	Silent	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:74383970C>A	ENST00000263665.6	-	12	1611	c.1584G>T	c.(1582-1584)ctG>ctT	p.L528L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	528	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGATGTCTAACAGCGGGTCAT	0.438																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1582-1584)ctG>ctT		contactin 3 (plasmacytoma associated)							122.0	115.0	117.0					3																	74383970		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74383970C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1584G>T	3.37:g.74383970C>A							p.L528L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	12	1611	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	528			Ig-like C2-type 6.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1584G>T	CCDS33790.1																																																																																				0.438	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		5	65	1	0	5.9392e-07	1	6.83008e-07	5	65				
IGHV3-66	28412	broad.mit.edu	37	14	107131441	107131441	+	RNA	SNP	A	A	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr14:107131441A>G	ENST00000390632.2	-	0	119									immunoglobulin heavy variable 3-66																		ATCACCTTTTAAAATAGCAAC	0.453																																						ENST00000390632.2																			0																				114.0	122.0	120.0					14																	107131441		1840	4083	5923			28412							g.chr14:107131441A>G	X92218		14q32.33	2012-02-08			ENSG00000211972	ENSG00000211972		"""Immunoglobulins / IGH locus"""	5619	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151880		14.37:g.107131441A>G														0	119	-									RNA	SNP	ENST00000390632.2	37																																																																																						0.453	IGHV3-66-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324225.1	NG_001019		4	149	0	0	0	1	0	4	149				
MAATS1	89876	broad.mit.edu	37	3	119451227	119451227	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:119451227T>G	ENST00000273390.5	+	9	1182	c.1105T>G	c.(1105-1107)Tca>Gca	p.S369A		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	532						mitochondrion (GO:0005739)											TGATTATGCATCACAGGTCTA	0.368																																						ENST00000273390.5																			0											c.(1105-1107)Tca>Gca		MYCBP-associated, testis expressed 1							69.0	73.0	71.0					3																	119451227		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119451227T>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1105T>G	3.37:g.119451227T>G	ENSP00000273390:p.Ser369Ala						p.S369A	NM_033364.3	NP_203528.2					9	1182	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1105T>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078487	0.76528	.	.	ENSG00000183833	ENST00000273390	T	0.39997	1.05	5.66	5.66	0.87406	.	0.079870	0.56097	D	0.000038	T	0.69735	0.3144	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.85130	0.997;0.957;0.979;0.944	T	0.75863	-0.3167	10	0.72032	D	0.01	5.7114	15.9078	0.79445	0.0:0.0:0.0:1.0	.	130;307;369;369	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	A	369	ENSP00000273390:S369A	ENSP00000273390:S369A	S	+	1	0	C3orf15	120933917	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.971000	0.56831	2.144000	0.66660	0.460000	0.39030	TCA		0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		18	61	0	0	0	1	0	18	61				
TAF4	6874	broad.mit.edu	37	20	60581703	60581703	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60581703C>T	ENST00000252996.4	-	7	2085	c.2086G>A	c.(2086-2088)Gtg>Atg	p.V696M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	696					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCAGCACCACGGCCGTGAGC	0.716																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2086-2088)Gtg>Atg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							20.0	25.0	23.0					20																	60581703		2200	4295	6495	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581703C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2086G>A	20.37:g.60581703C>T	ENSP00000252996:p.Val696Met					TAF4_ENST00000488539.1_5'UTR	p.V696M	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2085	-	Breast(26;1e-08)		696					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2086G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734514	0.89482	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27557	1.66;1.67	5.46	5.46	0.80206	.	0.064962	0.64402	D	0.000011	T	0.52370	0.1730	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.47711	-0.9096	10	0.49607	T	0.09	-19.8984	19.2974	0.94128	0.0:1.0:0.0:0.0	.	696	O00268	TAF4_HUMAN	M	696;560	ENSP00000252996:V696M;ENSP00000399091:V560M	ENSP00000252996:V696M	V	-	1	0	TAF4	60015098	1.000000	0.71417	0.993000	0.49108	0.876000	0.50452	5.251000	0.65438	2.550000	0.86006	0.563000	0.77884	GTG		0.716	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		4	25	0	0	0	1	0	4	25				
RAI1	10743	broad.mit.edu	37	17	17699978	17699978	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:17699978T>G	ENST00000353383.1	+	3	4185	c.3716T>G	c.(3715-3717)cTg>cGg	p.L1239R	RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1239					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCGGAACCTGGTCTTGCGG	0.642																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3715-3717)cTg>cGg		retinoic acid induced 1							28.0	32.0	31.0					17																	17699978		2203	4299	6502	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699978T>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3716T>G	17.37:g.17699978T>G	ENSP00000323074:p.Leu1239Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R	p.L1239R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4185	+			1239					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.3716T>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538995	0.45176	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.67698	-0.28;0.33	4.18	3.1	0.35709	.	0.000000	0.40302	N	0.001138	T	0.75236	0.3822	L	0.60455	1.87	0.36895	D	0.890086	D	0.71674	0.998	D	0.85130	0.997	T	0.76035	-0.3106	10	0.45353	T	0.12	.	9.1723	0.37089	0.0:0.088:0.0:0.912	.	1239	Q7Z5J4	RAI1_HUMAN	R	1239;1239;1239;1191	ENSP00000323074:L1239R;ENSP00000261641:L1239R	ENSP00000261641:L1239R	L	+	2	0	RAI1	17640703	0.828000	0.29307	0.577000	0.28562	0.936000	0.57629	1.520000	0.35899	0.500000	0.27991	0.260000	0.18958	CTG		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		6	26	0	0	0	1	0	6	26				
ERC2	26059	broad.mit.edu	37	3	56468448	56468448	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:56468448C>G	ENST00000288221.6	-	2	843	c.588G>C	c.(586-588)ttG>ttC	p.L196F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	196						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCTTTCCTCAAGACTCTCT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(586-588)ttG>ttC		ELKS/RAB6-interacting/CAST family member 2							135.0	130.0	132.0					3																	56468448		1918	4124	6042	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468448C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.588G>C	3.37:g.56468448C>G	ENSP00000288221:p.Leu196Phe						p.L196F	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	843	-			196					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.588G>C	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035022	0.54896	.	.	ENSG00000187672	ENST00000288221	T	0.51325	0.71	5.77	3.97	0.46021	.	0.059273	0.64402	D	0.000002	T	0.47525	0.1450	M	0.75264	2.295	0.40776	D	0.983135	P	0.34587	0.458	B	0.31614	0.133	T	0.57745	-0.7758	10	0.87932	D	0	-5.6079	12.8477	0.57839	0.0:0.8661:0.0:0.1339	.	196	O15083	ERC2_HUMAN	F	196	ENSP00000288221:L196F	ENSP00000288221:L196F	L	-	3	2	ERC2	56443488	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.357000	0.52277	1.461000	0.47929	0.643000	0.83706	TTG		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		21	59	0	0	0	1	0	21	59				
PID1	55022	broad.mit.edu	37	2	229890554	229890554	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:229890554C>A	ENST00000354069.6	-	3	577	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Missense_Mutation_p.V181F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000409462.1_Missense_Mutation_p.V101F			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	183	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCCTGTAGACCCAGGCGAAG	0.602																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(541-543)Gtc>Ttc		phosphotyrosine interaction domain containing 1							153.0	135.0	141.0					2																	229890554		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890554C>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.547G>T	2.37:g.229890554C>A	ENSP00000283937:p.Val183Phe					PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.V101F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000354069.6_Missense_Mutation_p.V183F	p.V181F	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	880	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	183			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.541G>T		.	.	.	.	.	.	.	.	.	.	C	16.55	3.154026	0.57259	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	6.07	5.2	0.72013	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.107189	0.64402	D	0.000005	T	0.56187	0.1968	L	0.43152	1.355	0.53688	D	0.99997	P;P;P;P	0.49783	0.926;0.815;0.928;0.884	B;B;P;P	0.47528	0.39;0.39;0.494;0.549	T	0.54977	-0.8212	8	.	.	.	-30.4254	14.2764	0.66181	0.0:0.9295:0.0:0.0705	.	101;150;181;183	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	F	181;101;150;183;183	.	.	V	-	1	0	PID1	229598798	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.267000	0.58877	1.583000	0.49898	0.655000	0.94253	GTC		0.602	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		4	68	1	0	0.00909568	1	0.00973026	4	68				
OIT3	170392	broad.mit.edu	37	10	74673076	74673076	+	Silent	SNP	G	G	A			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr10:74673076G>A	ENST00000334011.5	+	6	1019	c.801G>A	c.(799-801)ttG>ttA	p.L267L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	267	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCCCTGTGTTGTGCAAATCAA	0.522																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(799-801)ttG>ttA		oncoprotein induced transcript 3							207.0	205.0	206.0					10																	74673076		2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74673076G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.801G>A	10.37:g.74673076G>A							p.L267L	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1019	+	Prostate(51;0.0198)		267			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.801G>A	CCDS7318.1																																																																																				0.522	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		9	173	0	0	0	1	0	9	173				
PPP1R21	129285	broad.mit.edu	37	2	48701954	48701954	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:48701954G>C	ENST00000294952.8	+	12	1378	c.1221G>C	c.(1219-1221)ttG>ttC	p.L407F	PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	407						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTCTTGCCTTGCCAAGTAAGT	0.443																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1219-1221)ttG>ttC		protein phosphatase 1, regulatory subunit 21							140.0	122.0	128.0					2																	48701954		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48701954G>C	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1221G>C	2.37:g.48701954G>C	ENSP00000294952:p.Leu407Phe					PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F	p.L407F	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			12	1378	+			407					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1221G>C	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596084	0.66332	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.994;0.994;0.989;0.961	T	0.70464	-0.4864	9	0.56958	D	0.05	-7.2209	9.4318	0.38615	0.1645:0.0:0.8355:0.0	.	407;407;407;407	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	F	407	.	ENSP00000281394:L407F	L	+	3	2	KLRAQ1	48555458	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.599000	0.67592	2.510000	0.84645	0.650000	0.86243	TTG		0.443	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		3	59	0	0	0	1	0	3	59				
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs34075690|rs148192373	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													?|GGGGGG|GGGGG|unsure	2948	0.588658	0.5439	0.6398	5008	,	,		18076	0.5258		0.6143	False		,,,				2504	0.6513					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720687delG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720687delG										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1233	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	4						4	4	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256975	240256975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:240256975delG	ENST00000319653.9	+	1	1796	c.1566delG	c.(1564-1566)aagfs	p.K522fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	522					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGCCGCCAAGGCGTCTGGGG	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1564-1566)aafs		formin 2							3.0	4.0	4.0					1																	240256975		1697	3578	5275	SO:0001589	frameshift_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256975delG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1566delG	1.37:g.240256975delG	ENSP00000318884:p.Lys522fs						p.K522fs	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1796	+	Ovarian(103;0.127)	all_cancers(173;0.013)	522					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	c.1566delG	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	4						2	4	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	2						4	2	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			729156							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	6						3	6	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			4	5						4	5	---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48165686	48165686	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:48165686delC	ENST00000320031.8	+	25	3473	c.3143delC	c.(3142-3144)accfs	p.T1048fs	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1048					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGAGGCTGACCGACGACTAC	0.687																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3142-3144)acfs		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							11.0	14.0	13.0					17																	48165686		2168	4253	6421	SO:0001589	frameshift_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48165686delC	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3143delC	17.37:g.48165686delC	ENSP00000315190:p.Thr1048fs					ITGA3_ENST00000007722.7_Intron	p.T1048fs	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			25	3473	+			1048					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Frame_Shift_Del	DEL	ENST00000320031.8	37	c.3143delC	CCDS11558.1																																																																																				0.687	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		2	4						2	4	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs138602183|rs34295949|rs548360441	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:14694175_14694176insGGA	ENST00000417570.1	+	2	88_89	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	CLEC17A_ENST00000547437.1_In_Frame_Ins_p.22_23insE|RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GAAGGGACCATGGAGGAGGAGG	0.579														414	0.0826677	0.174	0.0346	5008	,	,		19484	0.004		0.0656	False		,,,				2504	0.092					ENST00000547437.1																			0											c.(49-51)aga>aGGAga		C-type lectin domain family 17, member A																																				SO:0001652	inframe_insertion	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694175_14694176insGGA	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66_68dupGGA	19.37:g.14694182_14694184dupGGA	ENSP00000393719:p.Glu22_Glu22dup					CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR	p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			2	127_128	+			17					A8MX68|B2RTX0|B7ZMM4	In_Frame_Ins	INS	ENST00000417570.1	37	c.50_51insGGA	CCDS56087.1																																																																																				0.579	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		7	8						7	8	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	38						7	38	---	---	---	---
