#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
GANC	2595	broad.mit.edu	37	15	42631922	42631922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631922C>A	ENST00000318010.8	+	17	2139	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	633					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGCGTTGGTACCAGGCTGGAG	0.562																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1897-1899)taC>taA		glucosidase, alpha; neutral C							91.0	88.0	89.0					15																	42631922		2203	4299	6502	SO:0001587	stop_gained	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631922C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1899C>A	15.37:g.42631922C>A	ENSP00000326227:p.Tyr633*						p.Y633*	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2139	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	633					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Nonsense_Mutation	SNP	ENST00000318010.8	37	c.1899C>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	39	7.824981	0.98510	.	.	ENSG00000214013	ENST00000318010	.	.	.	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2821	9.4186	0.38536	0.0:0.7991:0.0:0.2009	.	.	.	.	X	633	.	ENSP00000326227:Y633X	Y	+	3	2	GANC	40419214	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.221000	0.51215	1.486000	0.48398	0.655000	0.94253	TAC		0.562	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		3	106	1	0	1.23904e-05	1	1.33896e-05	3	106				
PRSS23	11098	broad.mit.edu	37	11	86519574	86519574	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:86519574G>A	ENST00000280258.5	+	2	1314	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	297						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTCTGTGACGTCAAAGACGA	0.557																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(889-891)Gtc>Atc		protease, serine, 23							104.0	105.0	105.0					11																	86519574		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519574G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.889G>A	11.37:g.86519574G>A	ENSP00000280258:p.Val297Ile					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I	p.V297I	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1314	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	297					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.889G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993954	0.74703	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.42131	0.98;0.98	5.97	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.117372	0.64402	N	0.000019	T	0.30885	0.0779	L	0.31420	0.93	0.53688	D	0.999974	B;B	0.16603	0.005;0.018	B;B	0.15052	0.012;0.012	T	0.07009	-1.0795	9	.	.	.	-25.534	13.1442	0.59452	0.0803:0.0:0.9197:0.0	.	265;297	B4E2J3;O95084	.;PRS23_HUMAN	I	297;265	ENSP00000280258:V297I;ENSP00000393015:V265I	.	V	+	1	0	PRSS23	86197222	1.000000	0.71417	0.948000	0.38648	0.860000	0.49131	6.313000	0.72844	1.447000	0.47661	0.655000	0.94253	GTC		0.557	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		8	72	0	0	0	1	0	8	72				
MYO15A	51168	broad.mit.edu	37	17	18022689	18022689	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:18022689G>A	ENST00000205890.5	+	2	913	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	192					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGTTCCCCCGCAGCCGCAGC	0.711																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(574-576)cGc>cAc		myosin XVA							18.0	21.0	20.0					17																	18022689		1931	4122	6053	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022689G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.575G>A	17.37:g.18022689G>A	ENSP00000205890:p.Arg192His						p.R192H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	913	+	all_neural(463;0.228)		192			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.575G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594377	0.86953	.	.	ENSG00000091536	ENST00000205890	D	0.91011	-2.77	5.34	5.34	0.76211	.	.	.	.	.	D	0.91858	0.7423	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.92691	0.6166	9	0.59425	D	0.04	.	18.6236	0.91330	0.0:0.0:1.0:0.0	.	192	Q9UKN7	MYO15_HUMAN	H	192	ENSP00000205890:R192H	ENSP00000205890:R192H	R	+	2	0	MYO15A	17963414	0.997000	0.39634	0.999000	0.59377	0.919000	0.55068	4.605000	0.61119	2.481000	0.83766	0.555000	0.69702	CGC		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	25	0	0	0	1	0	3	25				
CCDC61	729440	broad.mit.edu	37	19	46518613	46518613	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:46518613C>A	ENST00000595358.1	+	7	822	c.773C>A	c.(772-774)gCg>gAg	p.A258E	CCDC61_ENST00000536603.1_Intron|CCDC61_ENST00000594087.1_Intron|CCDC61_ENST00000263284.2_Missense_Mutation_p.A315E	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	258						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTCGAGGAGGCGAAGGCATCG	0.741																																						ENST00000263284.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(943-945)gCg>gAg		coiled-coil domain containing 61							12.0	14.0	13.0					19																	46518613		1820	3908	5728	SO:0001583	missense	729440							g.chr19:46518613C>A		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.773C>A	19.37:g.46518613C>A	ENSP00000471454:p.Ala258Glu					CCDC61_ENST00000536603.1_Intron|CCDC61_ENST00000594087.1_Intron|CCDC61_ENST00000595358.1_Missense_Mutation_p.A258E	p.A315E						OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	8	944	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	c.944C>A	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457341	0.63401	.	.	ENSG00000104983	ENST00000263284	.	.	.	3.86	2.83	0.33086	.	0.534742	0.18507	N	0.139173	T	0.32346	0.0826	N	0.24115	0.695	0.80722	D	1	P	0.34724	0.465	B	0.30251	0.113	T	0.09773	-1.0659	9	0.56958	D	0.05	-14.1383	5.6098	0.17398	0.0:0.1385:0.0:0.8615	.	258	Q9Y6R9	CCD61_HUMAN	E	315	.	ENSP00000263284:A315E	A	+	2	0	CCDC61	51210453	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	1.104000	0.31074	0.487000	0.27698	0.299000	0.19835	GCG		0.741	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		6	24	1	0	0.00198382	1	0.00204486	6	24				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	56	0	0	0	1	0	3	56				
COL24A1	255631	broad.mit.edu	37	1	86210365	86210365	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:86210365T>G	ENST00000370571.2	-	57	5022	c.4656A>C	c.(4654-4656)gaA>gaC	p.E1552D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1552	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATACTTTTTGTTCACAGTTAA	0.373																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4654-4656)gaA>gaC		collagen, type XXIV, alpha 1							154.0	142.0	146.0					1																	86210365		1855	4090	5945	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210365T>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4656A>C	1.37:g.86210365T>G	ENSP00000359603:p.Glu1552Asp					COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D	p.E1552D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5022	-			1552			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4656A>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473963	0.43942	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.73469	-0.75;-0.75	5.29	4.17	0.49024	Fibrillar collagen, C-terminal (3);	0.558717	0.15061	N	0.282775	T	0.62612	0.2442	N	0.25825	0.765	0.34458	D	0.701428	P;P	0.49862	0.929;0.855	P;P	0.59115	0.852;0.69	T	0.61633	-0.7023	10	0.35671	T	0.21	.	9.4245	0.38572	0.0:0.1525:0.0:0.8475	.	1552;1531	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	1552;1531	ENSP00000359603:E1552D;ENSP00000392531:E1531D	ENSP00000359603:E1552D	E	-	3	2	COL24A1	85982953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.698000	0.25571	0.968000	0.38212	0.460000	0.39030	GAA		0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		13	62	0	0	0	1	0	13	62				
ZFP36L1	677	broad.mit.edu	37	14	69256720	69256720	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:69256720G>C	ENST00000439696.2	-	2	848	c.547C>G	c.(547-549)Cgt>Ggt	p.R183G	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	183					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCAGGGCACGGCGCTCTTCA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(547-549)Cgt>Ggt		ZFP36 ring finger protein-like 1							26.0	32.0	30.0					14																	69256720		2201	4295	6496	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256720G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.547C>G	14.37:g.69256720G>C	ENSP00000388402:p.Arg183Gly		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G|ZFP36L1_ENST00000555997.1_3'UTR	p.R183G	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	848	-			183					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.547C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155525	0.38021	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T	0.38240	1.15;1.15	4.5	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.54323	1.7	0.80722	D	1	P	0.43094	0.799	B	0.37888	0.26	T	0.42413	-0.9453	10	0.72032	D	0.01	-9.7454	13.9812	0.64306	0.0:0.0:0.7161:0.2839	.	183	Q07352	TISB_HUMAN	G	183;183;166;189;161	ENSP00000388402:R183G;ENSP00000337386:R183G	ENSP00000337386:R183G	R	-	1	0	ZFP36L1	68326473	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.547000	0.82146	1.086000	0.41228	0.585000	0.79938	CGT		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			20	19	0	0	0	1	0	20	19				
LIG1	3978	broad.mit.edu	37	19	48621022	48621022	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:48621022C>A	ENST00000263274.7	-	26	2875	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.S751I|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.S788I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	819					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGGGCGTGGGCTGGGCAGCAC	0.622								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2455-2457)aGc>aTc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						34.0	30.0	32.0					19																	48621022		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48621022C>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2456G>T	19.37:g.48621022C>A	ENSP00000263274:p.Ser819Ile					LIG1_ENST00000536218.1_Missense_Mutation_p.S751I|LIG1_ENST00000427526.2_Missense_Mutation_p.S788I	p.S819I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2875	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	819					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2456G>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	3.985	-0.005608	0.07773	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.64618	-0.11;-0.11;-0.11	4.59	-0.836	0.10770	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.771347	0.11816	N	0.526720	T	0.53867	0.1823	L	0.33710	1.025	0.09310	N	0.999998	B;B;B	0.25272	0.013;0.053;0.122	B;B;B	0.27796	0.029;0.083;0.068	T	0.49072	-0.8977	10	0.49607	T	0.09	-0.9344	18.3531	0.90345	0.0:0.7395:0.2605:0.0	.	788;751;819	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	I	819;788;751	ENSP00000263274:S819I;ENSP00000442841:S788I;ENSP00000441531:S751I	ENSP00000263274:S819I	S	-	2	0	LIG1	53312834	0.000000	0.05858	0.012000	0.15200	0.005000	0.04900	0.183000	0.16919	-0.116000	0.11893	-0.311000	0.09066	AGC		0.622	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	22	1	0	0.184627	1	0.184627	5	22				
SPEF2	79925	broad.mit.edu	37	5	35692786	35692786	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:35692786A>G	ENST00000356031.3	+	12	2013	c.1859A>G	c.(1858-1860)gAt>gGt	p.D620G	SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000440995.2_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	620					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGAAGAAGATGCTCTACCA	0.393																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1858-1860)gAt>gGt		sperm flagellar 2							99.0	101.0	101.0					5																	35692786		1853	4089	5942	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35692786A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1859A>G	5.37:g.35692786A>G	ENSP00000348314:p.Asp620Gly					SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000356031.3_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA	p.D620G			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1859	+	all_lung(31;7.56e-05)		620					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1859A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	6.802	0.517023	0.13005	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.30714	3.39;3.29;3.41;1.52	5.09	-0.694	0.11294	.	1.837800	0.02723	N	0.114259	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25904	0.085;0.137;0.085	B;B;B	0.21917	0.026;0.037;0.016	T	0.08027	-1.0742	10	0.14252	T	0.57	.	0.3211	0.00303	0.4279:0.1614:0.1922:0.2184	.	620;620;620	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	G	620;620;620;131	ENSP00000348314:D620G;ENSP00000421593:D620G;ENSP00000412125:D620G;ENSP00000421744:D131G	ENSP00000348314:D620G	D	+	2	0	SPEF2	35728543	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.636000	0.24644	-0.039000	0.13602	0.477000	0.44152	GAT		0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	59	0	0	0	1	0	3	59				
ITIH2	3698	broad.mit.edu	37	10	7751115	7751115	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:7751115T>A	ENST00000358415.4	+	4	489	c.323T>A	c.(322-324)gTt>gAt	p.V108D	ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	108	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGTTTGATGTTCAGATCCCC	0.453																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(322-324)gTt>gAt		inter-alpha-trypsin inhibitor heavy chain 2							134.0	124.0	128.0					10																	7751115		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7751115T>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.323T>A	10.37:g.7751115T>A	ENSP00000351190:p.Val108Asp					ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D	p.V108D	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			4	489	+			108			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.323T>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857243	0.91433	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.27557	1.66;1.66;1.66	5.85	5.85	0.93711	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.058369	0.64402	D	0.000002	T	0.63034	0.2477	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.70799	-0.4774	10	0.87932	D	0	-19.1109	16.2365	0.82377	0.0:0.0:0.0:1.0	.	108	P19823	ITIH2_HUMAN	D	108;83;97	ENSP00000351190:V108D;ENSP00000388826:V83D;ENSP00000368906:V97D	ENSP00000351190:V108D	V	+	2	0	ITIH2	7791121	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.698000	0.84413	2.238000	0.73509	0.477000	0.44152	GTT		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		21	55	0	0	0	1	0	21	55				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	34	0	0	0	1	0	3	34				
IL25	64806	broad.mit.edu	37	14	23844881	23844881	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:23844881G>A	ENST00000329715.2	+	2	584	c.326G>A	c.(325-327)cGt>cAt	p.R109H	CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.R93H|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	109					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TACCACGCCCGTTGCCTGTGC	0.632																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(325-327)cGt>cAt		interleukin 25							92.0	92.0	92.0					14																	23844881		2203	4300	6503	SO:0001583	missense	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23844881G>A	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.326G>A	14.37:g.23844881G>A	ENSP00000328111:p.Arg109His					IL25_ENST00000397242.2_Missense_Mutation_p.R93H	p.R109H	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	584	+	all_cancers(95;2e-05)		109					Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	c.326G>A	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002157	0.74932	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.57273	0.41;0.41	4.6	3.71	0.42584	.	0.113462	0.40640	N	0.001059	T	0.62307	0.2417	L	0.51422	1.61	0.32325	N	0.56185	D;B	0.89917	1.0;0.163	D;B	0.75484	0.986;0.042	T	0.68424	-0.5412	10	0.56958	D	0.05	-24.8202	8.15	0.31134	0.1085:0.0:0.8915:0.0	.	109;93	Q9H293;Q9H293-2	IL25_HUMAN;.	H	93;109	ENSP00000380417:R93H;ENSP00000328111:R109H	ENSP00000328111:R109H	R	+	2	0	IL25	22914721	0.107000	0.21998	0.943000	0.38184	0.973000	0.67179	0.630000	0.24553	1.162000	0.42619	0.561000	0.74099	CGT		0.632	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			12	103	0	0	0	1	0	12	103				
CCDC174	51244	broad.mit.edu	37	3	14712672	14712672	+	Missense_Mutation	SNP	A	A	G	rs377188267		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:14712672A>G	ENST00000383794.3	+	11	1448	c.1375A>G	c.(1375-1377)Atg>Gtg	p.M459V	CCDC174_ENST00000303688.7_Missense_Mutation_p.M383V	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	459						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTGGATGACATGATTTCCTA	0.483																																						ENST00000383794.3																			0											c.(1375-1377)Atg>Gtg		coiled-coil domain containing 174		A	VAL/MET	0,4406		0,0,2203	86.0	86.0	86.0		1375	4.4	1.0	3		86	1,8599		0,1,4299	no	missense	C3orf19	NM_016474.4	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	459/468	14712672	1,13005	2203	4300	6503	SO:0001583	missense	51244							g.chr3:14712672A>G	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1375A>G	3.37:g.14712672A>G	ENSP00000373304:p.Met459Val					CCDC174_ENST00000303688.7_Missense_Mutation_p.M383V	p.M459V	NM_016474.4	NP_057558.3					11	1448	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.1375A>G	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858694	0.71834	0.0	1.16E-4	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.54071	0.86;0.59	5.61	4.38	0.52667	.	0.185936	0.56097	D	0.000038	T	0.49304	0.1549	L	0.56769	1.78	0.26833	N	0.968544	P	0.45428	0.858	B	0.41723	0.365	T	0.54377	-0.8303	10	0.66056	D	0.02	-37.7407	11.5003	0.50433	0.85:0.15:0.0:0.0	.	459	Q6PII3	CC019_HUMAN	V	459;383;286	ENSP00000373304:M459V;ENSP00000302344:M383V	ENSP00000285042:M286V	M	+	1	0	C3orf19	14687676	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.892000	0.56235	2.133000	0.65898	0.482000	0.46254	ATG		0.483	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		33	48	0	0	0	1	0	33	48				
COL6A3	1293	broad.mit.edu	37	2	238289893	238289893	+	Missense_Mutation	SNP	G	G	A	rs115881121	byFrequency	TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr2:238289893G>A	ENST00000295550.4	-	5	2014	c.1562C>T	c.(1561-1563)tCg>tTg	p.S521L	COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	521	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S521L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTACAGGGCCGAGCCGTCCAG	0.517													G|||	5	0.000998403	0.0	0.0	5008	,	,		19627	0.005		0.0	False		,,,				2504	0.0					ENST00000295550.4																			1	Substitution - Missense(1)	p.S521L(1)	central_nervous_system(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1561-1563)tCg>tTg		collagen, type VI, alpha 3							91.0	103.0	99.0					2																	238289893		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289893G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1562C>T	2.37:g.238289893G>A	ENSP00000295550:p.Ser521Leu					COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L	p.S521L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	2014	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	521			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1562C>T	CCDS33412.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.304	1.053919	0.19907	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.5	4.61	0.57282	von Willebrand factor, type A (3);	0.899723	0.09244	N	0.828813	D	0.84365	0.5456	L	0.27944	0.81	0.09310	N	1	B;D;B;P;P;B	0.60160	0.375;0.987;0.325;0.539;0.946;0.375	B;P;B;B;B;B	0.56788	0.064;0.806;0.164;0.228;0.406;0.064	T	0.75496	-0.3297	10	0.46703	T	0.11	.	15.6622	0.77197	0.0:0.0:0.8617:0.1383	.	521;114;114;315;315;521	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	L	521;320;315;114;315;521;315;114;521	ENSP00000295550:S521L;ENSP00000315609:S320L;ENSP00000315873:S315L;ENSP00000418285:S114L;ENSP00000386844:S315L;ENSP00000295546:S521L;ENSP00000375861:S315L;ENSP00000375860:S114L;ENSP00000389539:S521L	ENSP00000295550:S521L	S	-	2	0	COL6A3	237954632	0.020000	0.18652	0.003000	0.11579	0.262000	0.26303	2.000000	0.40816	1.289000	0.44618	-0.182000	0.12963	TCG		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		29	65	0	0	0	1	0	29	65				
DAB2IP	153090	broad.mit.edu	37	9	124532879	124532879	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:124532879G>A	ENST00000408936.3	+	11	2136	c.1954G>A	c.(1954-1956)Gca>Aca	p.A652T	DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	652	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.A528>?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGTCCACACAGCACTGAGCAC	0.612																																						ENST00000408936.3																			1	Complex(1)	p.A528>?(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1954-1956)Gca>Aca		DAB2 interacting protein							58.0	53.0	55.0					9																	124532879		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124532879G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1954G>A	9.37:g.124532879G>A	ENSP00000386183:p.Ala652Thr					DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T	p.A652T			Q5VWQ8	DAB2P_HUMAN			11	2136	+			652					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1954G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.597918	0.87055	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.87	4.87	0.63330	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.159010	0.56097	D	0.000031	T	0.29028	0.0721	M	0.69823	2.125	0.53688	D	0.999975	P;B	0.41978	0.767;0.318	B;B	0.39904	0.313;0.108	T	0.19289	-1.0310	10	0.72032	D	0.01	.	17.1743	0.86837	0.0:0.0:1.0:0.0	.	652;624	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	T	624;652;561;528	ENSP00000259371:A624T;ENSP00000386183:A652T;ENSP00000362887:A561T;ENSP00000310827:A528T	ENSP00000259371:A624T	A	+	1	0	DAB2IP	123572700	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	9.236000	0.95360	2.509000	0.84616	0.563000	0.77884	GCA		0.612	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		3	40	0	0	0	1	0	3	40				
ARMC3	219681	broad.mit.edu	37	10	23287302	23287302	+	Silent	SNP	G	G	A	rs544182119		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:23287302G>A	ENST00000298032.5	+	11	1485	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Silent_p.A467A|ARMC3_ENST00000376528.4_Silent_p.A204A|ARMC3_ENST00000409049.3_Silent_p.A467A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	467						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGCAACTGCGTGTGACGTTG	0.458																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1399-1401)gcG>gcA		armadillo repeat containing 3							59.0	56.0	57.0					10																	23287302		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23287302G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1401G>A	10.37:g.23287302G>A						ARMC3_ENST00000409983.3_Silent_p.A467A|ARMC3_ENST00000409049.3_Silent_p.A467A|ARMC3_ENST00000376528.4_Silent_p.A204A	p.A467A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1485	+			467					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.1401G>A	CCDS7142.1																																																																																				0.458	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		13	15	0	0	0	1	0	13	15				
ANKRD52	283373	broad.mit.edu	37	12	56647135	56647135	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56647135G>A	ENST00000267116.7	-	10	1158	c.1037C>T	c.(1036-1038)gCt>gTt	p.A346V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	346										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATATCGAGCAGCCACATGCAG	0.582																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1036-1038)gCt>gTt		ankyrin repeat domain 52							79.0	82.0	81.0					12																	56647135		2117	4238	6355	SO:0001583	missense	283373						protein binding	g.chr12:56647135G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1037C>T	12.37:g.56647135G>A	ENSP00000267116:p.Ala346Val						p.A346V	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			10	1158	-			346					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1037C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448576	0.96205	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	D	0.81739	-1.53	4.19	4.19	0.49359	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94099	0.7360	10	0.87932	D	0	.	15.8448	0.78879	0.0:0.0:1.0:0.0	.	346	Q8NB46	ANR52_HUMAN	V	346	ENSP00000267116:A346V	ENSP00000267116:A346V	A	-	2	0	ANKRD52	54933402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.646000	0.98474	2.350000	0.79820	0.655000	0.94253	GCT		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		59	94	0	0	0	1	0	59	94				
KIAA0100	9703	broad.mit.edu	37	17	26951278	26951278	+	Silent	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:26951278G>A	ENST00000528896.2	-	25	4799	c.4725C>T	c.(4723-4725)aaC>aaT	p.N1575N	KIAA0100_ENST00000544884.1_Silent_p.N1432N|KIAA0100_ENST00000389003.3_Silent_p.N1432N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1575						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAATAAGGCAGTTTCGGTTGT	0.453																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4723-4725)aaC>aaT		KIAA0100							195.0	158.0	171.0					17																	26951278		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26951278G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4725C>T	17.37:g.26951278G>A						KIAA0100_ENST00000544884.1_Silent_p.N1432N|KIAA0100_ENST00000389003.3_Silent_p.N1432N	p.N1575N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			25	4799	-	Lung NSC(42;0.00431)		1575					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.4725C>T	CCDS32595.1																																																																																				0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		3	105	0	0	0	1	0	3	105				
SUFU	51684	broad.mit.edu	37	10	104309804	104309804	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:104309804C>G	ENST00000369902.3	+	3	561	c.395C>G	c.(394-396)gCc>gGc	p.A132G	SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	132					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGGGAGTCTGCCCCACCAACA	0.522			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(394-396)gCc>gGc		suppressor of fused homolog (Drosophila)							127.0	118.0	121.0					10																	104309804		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104309804C>G	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.395C>G	10.37:g.104309804C>G	ENSP00000358918:p.Ala132Gly					SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G	p.A132G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	3	561	+		Colorectal(252;0.207)	132					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.395C>G	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407174	0.62399	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.83591	-1.74;-1.74;-1.74	5.24	5.24	0.73138	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	N	0.21583	0.68	0.80722	D	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.12837	0.004;0.003;0.008	T	0.68209	-0.5469	10	0.27082	T	0.32	-16.9352	18.8243	0.92111	0.0:1.0:0.0:0.0	.	132;132;132	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	G	132	ENSP00000358918:A132G;ENSP00000358915:A132G;ENSP00000411597:A132G	ENSP00000358915:A132G	A	+	2	0	SUFU	104299794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.478000	0.81082	2.461000	0.83175	0.561000	0.74099	GCC		0.522	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		13	36	0	0	0	1	0	13	36				
ZNF484	83744	broad.mit.edu	37	9	95609134	95609134	+	Silent	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:95609134A>G	ENST00000375495.3	-	5	2083	c.1935T>C	c.(1933-1935)ttT>ttC	p.F645F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Silent_p.F609F|ZNF484_ENST00000395506.3_Silent_p.F647F|ZNF484_ENST00000332591.6_Silent_p.F609F	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTGTCAGTAAAAGCCTTTC	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1825-1827)ttT>ttC		zinc finger protein 484							82.0	82.0	82.0					9																	95609134		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609134A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1935T>C	9.37:g.95609134A>G						ZNF484_ENST00000332591.6_Silent_p.F609F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.F645F|ZNF484_ENST00000395506.3_Silent_p.F647F	p.F609F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1919	-			645					B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.1827T>C	CCDS35066.1																																																																																				0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		4	90	0	0	0	1	0	4	90				
TRANK1	9881	broad.mit.edu	37	3	36898225	36898225	+	Silent	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:36898225A>G	ENST00000429976.2	-	12	3103	c.2856T>C	c.(2854-2856)taT>taC	p.Y952Y	TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000301807.6_Silent_p.Y402Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	952							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTCCTCCACATAGCAGCGAG	0.498																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2854-2856)taT>taC		tetratricopeptide repeat and ankyrin repeat containing 1							204.0	204.0	204.0					3																	36898225		2088	4216	6304	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898225A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2856T>C	3.37:g.36898225A>G						TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000301807.6_Silent_p.Y402Y	p.Y952Y			O15050	TRNK1_HUMAN			12	3103	-			952					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2856T>C	CCDS46789.2																																																																																				0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	216	0	0	0	1	0	5	216				
DCHS1	8642	broad.mit.edu	37	11	6640071	6640071	+	IGR	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:6640071C>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000299427.6_Silent_p.Q55Q|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_Intron	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACATTCTGCTGTCTCAGGG	0.612																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(163-165)caG>caA		tripeptidyl peptidase I							81.0	73.0	75.0					11																	6640071		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640071C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640071C>T						TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron	p.Q55Q	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	225	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	55					O15098	Silent	SNP	ENST00000299441.3	37	c.165G>A	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	60	0	0	0	1	0	26	60				
TPH2	121278	broad.mit.edu	37	12	72425401	72425401	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:72425401G>T	ENST00000333850.3	+	11	1540	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	467					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAAAATGTGGTGCAGGACCT	0.418																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1399-1401)Gtg>Ttg		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						161.0	155.0	157.0					12																	72425401		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425401G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1399G>T	12.37:g.72425401G>T	ENSP00000329093:p.Val467Leu						p.V467L	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1540	+			467					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1399G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229594	0.39399	.	.	ENSG00000139287	ENST00000333850	D	0.99474	-5.97	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.41079	1.255	0.80722	D	1	B	0.24092	0.097	B	0.35353	0.201	D	0.97507	1.0064	10	0.14656	T	0.56	-21.0823	13.3748	0.60732	0.0717:0.0:0.9283:0.0	.	467	Q8IWU9	TPH2_HUMAN	L	467	ENSP00000329093:V467L	ENSP00000329093:V467L	V	+	1	0	TPH2	70711668	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.058000	0.89460	2.773000	0.95371	0.586000	0.80456	GTG		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		4	170	1	0	0.000602214	1	0.000630443	4	170				
C9orf41	138199	broad.mit.edu	37	9	77599836	77599836	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:77599836C>T	ENST00000376834.3	-	7	1267	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	372										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TACCTTGAATCCATACTGCAG	0.368																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(1114-1116)gGa>gAa		chromosome 9 open reading frame 41							157.0	146.0	150.0					9																	77599836		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77599836C>T	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1115G>A	9.37:g.77599836C>T	ENSP00000366030:p.Gly372Glu					C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	p.G372E	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			7	1267	-			372					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.1115G>A	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943042	0.92526	.	.	ENSG00000156017	ENST00000376834	T	0.17691	2.26	5.93	5.93	0.95920	N2227-like (1);	0.053948	0.85682	N	0.000000	T	0.49729	0.1574	M	0.94101	3.495	0.80722	D	1	D	0.58620	0.983	P	0.55112	0.769	T	0.62348	-0.6873	10	0.87932	D	0	-13.6249	20.3495	0.98807	0.0:1.0:0.0:0.0	.	372	Q8N4J0	CI041_HUMAN	E	372	ENSP00000366030:G372E	ENSP00000366030:G372E	G	-	2	0	C9orf41	76789656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.589000	0.74080	2.814000	0.96858	0.591000	0.81541	GGA		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		3	39	0	0	0	1	0	3	39				
AGMO	392636	broad.mit.edu	37	7	15430468	15430468	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:15430468A>G	ENST00000342526.3	-	7	908	c.739T>C	c.(739-741)Ttt>Ctt	p.F247L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	247					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TACTTACCAAAAATTTTATCC	0.259																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(739-741)Ttt>Ctt		alkylglycerol monooxygenase							32.0	36.0	34.0					7																	15430468		2179	4271	6450	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430468A>G		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.739T>C	7.37:g.15430468A>G	ENSP00000341662:p.Phe247Leu						p.F247L	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			7	908	-			247					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.739T>C	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737130	0.89482	.	.	ENSG00000187546	ENST00000342526	T	0.68903	-0.36	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.90019	3.08	0.58432	D	0.999997	D	0.60575	0.988	P	0.61003	0.882	D	0.86917	0.2064	10	0.66056	D	0.02	.	15.5854	0.76479	1.0:0.0:0.0:0.0	.	247	Q6ZNB7	ALKMO_HUMAN	L	247	ENSP00000341662:F247L	ENSP00000341662:F247L	F	-	1	0	AGMO	15396993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.994000	0.88315	2.139000	0.66308	0.482000	0.46254	TTT		0.259	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		4	13	0	0	0	1	0	4	13				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	87	0	0	0	1	0	4	87				
WDR72	256764	broad.mit.edu	37	15	53992051	53992051	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:53992051C>T	ENST00000396328.1	-	13	1900	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	554										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGGTGCTTCCGGGCATGCAG	0.458																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1660-1662)cGg>cAg		WD repeat domain 72							122.0	128.0	126.0					15																	53992051		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992051C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1661G>A	15.37:g.53992051C>T	ENSP00000379619:p.Arg554Gln					WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q	p.R554Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1900	-			554					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1661G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248941	0.59103	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.60672	0.17;0.17	5.72	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071260	0.56097	D	0.000026	T	0.45155	0.1328	L	0.36672	1.1	0.31295	N	0.688932	P	0.40731	0.728	B	0.33454	0.164	T	0.59354	-0.7470	10	0.54805	T	0.06	.	14.7573	0.69576	0.0:0.9272:0.0:0.0728	.	554	Q3MJ13	WDR72_HUMAN	Q	554	ENSP00000379619:R554Q;ENSP00000353699:R554Q	ENSP00000353699:R554Q	R	-	2	0	WDR72	51779343	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.189000	0.50965	2.865000	0.98341	0.655000	0.94253	CGG		0.458	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		43	109	0	0	0	1	0	43	109				
ANKRD52	283373	broad.mit.edu	37	12	56638565	56638565	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56638565C>T	ENST00000267116.7	-	24	2714	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	865										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCGAAGGCAGCGGCGTGAAGG	0.582																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2593-2595)Gct>Act		ankyrin repeat domain 52							60.0	61.0	61.0					12																	56638565		2103	4232	6335	SO:0001583	missense	283373						protein binding	g.chr12:56638565C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2593G>A	12.37:g.56638565C>T	ENSP00000267116:p.Ala865Thr						p.A865T	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			24	2714	-			865					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2593G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226030	0.95173	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.81163	-1.46	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92745	0.6211	9	.	.	.	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	865	Q8NB46	ANR52_HUMAN	T	865	ENSP00000267116:A865T	.	A	-	1	0	ANKRD52	54924832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.527000	0.85204	0.655000	0.94253	GCT		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		3	63	0	0	0	1	0	3	63				
TTC26	79989	broad.mit.edu	37	7	138851601	138851601	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:138851601C>T	ENST00000464848.1	+	10	991	c.911C>T	c.(910-912)gCt>gTt	p.A304V	TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	304					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GTACAAGAAGCTTATAACTTA	0.348																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(910-912)gCt>gTt		tetratricopeptide repeat domain 26							104.0	106.0	105.0					7																	138851601		2202	4299	6501	SO:0001583	missense	79989						binding	g.chr7:138851601C>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.911C>T	7.37:g.138851601C>T	ENSP00000419279:p.Ala304Val					TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V	p.A304V			A0AVF1	TTC26_HUMAN			10	991	+			304					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.911C>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535021	0.85812	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.73047	0.95;0.95;0.82;0.95;-0.71	5.74	4.84	0.62591	Tetratricopeptide-like helical (1);	0.056069	0.64402	D	0.000001	D	0.87581	0.6213	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.988;1.0;0.999;1.0	D;P;D;D;D	0.97110	0.994;0.844;0.996;0.991;1.0	D	0.90694	0.4615	10	0.87932	D	0	.	15.4643	0.75387	0.0:0.8604:0.1396:0.0	.	173;273;304;304;273	B7Z2T3;F8W724;C9J2N7;A0AVF1;B7Z5M0	.;.;.;TTC26_HUMAN;.	V	304;173;197;304;273	ENSP00000410655:A304V;ENSP00000418788:A173V;ENSP00000419178:A197V;ENSP00000419279:A304V;ENSP00000339135:A273V	ENSP00000339135:A273V	A	+	2	0	TTC26	138502141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.779000	0.75057	1.359000	0.45940	0.650000	0.86243	GCT		0.348	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		5	56	0	0	0	1	0	5	56				
GDAP2	54834	broad.mit.edu	37	1	118426197	118426197	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:118426197A>C	ENST00000369443.5	-	11	1409	c.1160T>G	c.(1159-1161)gTa>gGa	p.V387G	GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	387	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATACACTAATACATACTCCTT	0.363																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(1159-1161)gTa>gGa		ganglioside induced differentiation associated protein 2							90.0	84.0	86.0					1																	118426197		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118426197A>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1160T>G	1.37:g.118426197A>C	ENSP00000358451:p.Val387Gly					GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G	p.V387G	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	11	1409	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	387			CRAL-TRIO.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1160T>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266137	0.80358	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.69175	-0.38;-0.38	4.88	4.88	0.63580	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84906	0.0845	10	0.87932	D	0	-15.4354	14.5006	0.67719	1.0:0.0:0.0:0.0	.	387;387	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	G	387	ENSP00000358451:V387G;ENSP00000358450:V387G	ENSP00000358450:V387G	V	-	2	0	GDAP2	118227720	1.000000	0.71417	0.595000	0.28798	0.911000	0.54048	8.962000	0.93254	1.830000	0.53286	0.397000	0.26171	GTA		0.363	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		3	40	0	0	0	1	0	3	40				
PLA2G4A	5321	broad.mit.edu	37	1	186862236	186862236	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:186862236T>G	ENST00000367466.3	+	4	361	c.209T>G	c.(208-210)gTg>gGg	p.V70G	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	70	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V70E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATAAACCCTGTGTGGAATGAG	0.378																																						ENST00000367466.3																			1	Substitution - Missense(1)	p.V70E(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(208-210)gTg>gGg		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						195.0	195.0	195.0					1																	186862236		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186862236T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.209T>G	1.37:g.186862236T>G	ENSP00000356436:p.Val70Gly					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G|PLA2G4A_ENST00000466600.1_3'UTR	p.V70G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			4	361	+			70			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.209T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152803	0.57259	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.73047	-0.71;-0.71	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.161534	0.53938	D	0.000044	T	0.78298	0.4261	M	0.91300	3.195	0.58432	D	0.999998	P;P	0.37731	0.607;0.557	B;B	0.38562	0.276;0.269	T	0.81409	-0.0946	10	0.48119	T	0.1	-11.799	15.1232	0.72460	0.0:0.0:0.0:1.0	.	70;70	E7EU42;P47712	.;PA24A_HUMAN	G	70	ENSP00000356436:V70G;ENSP00000406892:V70G	ENSP00000356436:V70G	V	+	2	0	PLA2G4A	185128859	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.991000	0.49409	2.162000	0.67917	0.533000	0.62120	GTG		0.378	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		19	151	0	0	0	1	0	19	151				
RHAG	6005	broad.mit.edu	37	6	49580195	49580195	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:49580195G>A	ENST00000371175.4	-	6	886	c.860C>T	c.(859-861)gCg>gTg	p.A287V	RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	287					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCCATATCCGCACAAGTGCC	0.473																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(859-861)gCg>gTg		Rh-associated glycoprotein							112.0	93.0	100.0					6																	49580195		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49580195G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.860C>T	6.37:g.49580195G>A	ENSP00000360217:p.Ala287Val					RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			6	886	-	Lung NSC(77;0.0255)		287					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.860C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973180	0.74246	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.29917	1.55;1.55	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.75020	0.98;0.985;0.877	T	0.59857	-0.7375	10	0.56958	D	0.05	-17.0245	18.4694	0.90767	0.0:0.0:1.0:0.0	.	287;287;287	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	V	287	ENSP00000360217:A287V;ENSP00000229810:A287V	ENSP00000229810:A287V	A	-	2	0	RHAG	49688154	1.000000	0.71417	0.972000	0.41901	0.473000	0.32948	7.876000	0.87215	2.600000	0.87896	0.655000	0.94253	GCG		0.473	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			3	70	0	0	0	1	0	3	70				
IVNS1ABP	10625	broad.mit.edu	37	1	185267218	185267218	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:185267218A>C	ENST00000367498.3	-	15	2500	c.1878T>G	c.(1876-1878)taT>taG	p.Y626*	IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	626					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACTCAAGGTTATAGACTTCCA	0.403																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1876-1878)taT>taG		influenza virus NS1A binding protein							167.0	163.0	165.0					1																	185267218		2203	4300	6503	SO:0001587	stop_gained	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267218A>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1878T>G	1.37:g.185267218A>C	ENSP00000356468:p.Tyr626*					IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR	p.Y626*	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			15	2500	-			626					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Nonsense_Mutation	SNP	ENST00000367498.3	37	c.1878T>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	42	9.559900	0.99205	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	.	.	.	5.38	-0.977	0.10282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8756	0.57988	0.5902:0.0:0.4098:0.0	.	.	.	.	X	626;408	.	ENSP00000356468:Y626X	Y	-	3	2	IVNS1ABP	183533841	1.000000	0.71417	0.706000	0.30403	0.426000	0.31534	0.982000	0.29539	-0.388000	0.07797	-1.450000	0.01041	TAT		0.403	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		52	99	0	0	0	1	0	52	99				
STOML3	161003	broad.mit.edu	37	13	39541069	39541069	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr13:39541069C>A	ENST00000379631.4	-	7	1113	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	STOML3_ENST00000423210.1_Missense_Mutation_p.A248S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	257					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTCTCGGTGGCTACCGTGCTC	0.493																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)Gcc>Tcc		stomatin (EPB72)-like 3							94.0	87.0	89.0					13																	39541069		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane		g.chr13:39541069C>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.769G>T	13.37:g.39541069C>A	ENSP00000368952:p.Ala257Ser					STOML3_ENST00000423210.1_Missense_Mutation_p.A248S	p.A257S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1113	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	257					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.769G>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461155	0.26248	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99523	-6.08;-6.08	5.46	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	L	0.39397	1.21	0.80722	D	1	B;B	0.26935	0.148;0.164	B;B	0.28139	0.07;0.086	D	0.97546	1.0089	10	0.05959	T	0.93	-24.1717	13.3449	0.60566	0.0:0.9223:0.0:0.0777	.	248;257	B4E285;Q8TAV4	.;STML3_HUMAN	S	257;248	ENSP00000368952:A257S;ENSP00000401989:A248S	ENSP00000368952:A257S	A	-	1	0	STOML3	38439069	1.000000	0.71417	0.564000	0.28396	0.126000	0.20510	5.801000	0.69115	1.286000	0.44565	0.655000	0.94253	GCC		0.493	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			4	51	1	0	0.00024832	1	0.000264086	4	51				
PCDHGA12	26025	broad.mit.edu	37	5	140812323	140812323	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:140812323A>G	ENST00000252085.3	+	1	2139	c.1997A>G	c.(1996-1998)gAc>gGc	p.D666G	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	666	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGGCCGACAGCATCCCC	0.662																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1996-1998)gAc>gGc									53.0	62.0	59.0					5																	140812323		2203	4300	6503	SO:0001583	missense	0							g.chr5:140812323A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1997A>G	5.37:g.140812323A>G	ENSP00000252085:p.Asp666Gly					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D666G	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2139	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1997A>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.729093	0.48833	.	.	ENSG00000253159	ENST00000252085	D	0.85013	-1.93	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.92987	0.7768	M	0.90252	3.1	0.35202	D	0.774381	D;P	0.63880	0.993;0.942	D;P	0.64595	0.927;0.858	D	0.97093	0.9792	9	0.87932	D	0	.	14.842	0.70233	1.0:0.0:0.0:0.0	.	666;666	O60330-2;O60330	.;PCDGC_HUMAN	G	666	ENSP00000252085:D666G	ENSP00000252085:D666G	D	+	2	0	PCDHGA12	140792507	1.000000	0.71417	0.982000	0.44146	0.020000	0.10135	9.035000	0.93752	2.038000	0.60285	0.459000	0.35465	GAC		0.662	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		4	115	0	0	0	1	0	4	115				
OR7C1	26664	broad.mit.edu	37	19	14910064	14910064	+	Silent	SNP	C	C	A	rs147900560		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:14910064C>A	ENST00000248073.2	-	1	959	c.885G>T	c.(883-885)acG>acT	p.T295T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCTTCATGTCCGTGTTCCTCA	0.522																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(883-885)acG>acT		olfactory receptor, family 7, subfamily C, member 1							83.0	83.0	83.0					19																	14910064		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910064C>A	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.885G>T	19.37:g.14910064C>A						OR7A5_ENST00000601611.1_Intron	p.T295T	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	959	-			295					Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.885G>T	CCDS12317.1																																																																																				0.522	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			3	83	1	0	0.00909568	1	0.00923349	3	83				
LTF	4057	broad.mit.edu	37	3	46490370	46490370	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:46490370C>T	ENST00000231751.4	-	9	1491	c.1196G>A	c.(1195-1197)tGc>tAc	p.C399Y	LTF_ENST00000426532.2_Missense_Mutation_p.C355Y|LTF_ENST00000417439.1_Missense_Mutation_p.C399Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	399	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAGGGCGATGCAGTCCTCTGT	0.637																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1195-1197)tGc>tAc		lactotransferrin	Pefloxacin(DB00487)						40.0	37.0	38.0					3																	46490370		2203	4295	6498	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490370C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1196G>A	3.37:g.46490370C>T	ENSP00000231751:p.Cys399Tyr					LTF_ENST00000417439.1_Missense_Mutation_p.C399Y|LTF_ENST00000426532.2_Missense_Mutation_p.C355Y	p.C399Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	9	1491	-			399			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1196G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633168	0.47049	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.94	4.94	0.65067	.	0.044560	0.85682	D	0.000000	D	0.83686	0.5308	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.977;0.998	D	0.90417	0.4414	10	0.87932	D	0	-20.537	16.0966	0.81129	0.0:1.0:0.0:0.0	.	399;386;399	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	Y	399;355;399;386	ENSP00000231751:C399Y;ENSP00000405719:C355Y;ENSP00000405546:C399Y;ENSP00000397427:C386Y	ENSP00000231751:C399Y	C	-	2	0	LTF	46465374	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	5.222000	0.65277	2.474000	0.83562	0.558000	0.71614	TGC		0.637	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		11	56	0	0	0	1	0	11	56				
GANC	2595	broad.mit.edu	37	15	42631923	42631923	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631923C>A	ENST00000318010.8	+	17	2140	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	634					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCGTTGGTACCAGGCTGGAGC	0.567																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1900-1902)Cag>Aag		glucosidase, alpha; neutral C							91.0	87.0	88.0					15																	42631923		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631923C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1900C>A	15.37:g.42631923C>A	ENSP00000326227:p.Gln634Lys						p.Q634K	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2140	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	634					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1900C>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501747	0.96371	.	.	ENSG00000214013	ENST00000318010	D	0.93076	-3.16	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98545	1.0634	10	0.87932	D	0	-12.5115	20.5568	0.99304	0.0:1.0:0.0:0.0	.	634	Q8TET4	GANC_HUMAN	K	634	ENSP00000326227:Q634K	ENSP00000326227:Q634K	Q	+	1	0	GANC	40419215	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.771000	0.85420	2.861000	0.98227	0.655000	0.94253	CAG		0.567	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		3	105	1	0	1.23904e-05	1	1.33896e-05	3	105				
TGM7	116179	broad.mit.edu	37	15	43579553	43579553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:43579553G>A	ENST00000452443.2	-	6	794	c.790C>T	c.(790-792)Cag>Tag	p.Q264*		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	264					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACCACTGCTGTAGGATGGCC	0.592																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(790-792)Cag>Tag		transglutaminase 7	L-Glutamine(DB00130)						65.0	51.0	56.0					15																	43579553		2202	4299	6501	SO:0001587	stop_gained	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43579553G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.790C>T	15.37:g.43579553G>A	ENSP00000389466:p.Gln264*						p.Q264*	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	6	794	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	264						Nonsense_Mutation	SNP	ENST00000452443.2	37	c.790C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950109	0.73787	.	.	ENSG00000159495	ENST00000452443	.	.	.	5.8	1.36	0.22044	.	0.107875	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-21.2424	5.0976	0.14742	0.1573:0.0:0.4629:0.3798	.	.	.	.	X	264	.	ENSP00000389466:Q264X	Q	-	1	0	TGM7	41366845	0.002000	0.14202	1.000000	0.80357	0.795000	0.44927	0.253000	0.18296	0.771000	0.33359	0.591000	0.81541	CAG		0.592	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	61	0	0	0	1	0	3	61				
CUTA	51596	broad.mit.edu	37	6	33384486	33384486	+	Silent	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:33384486G>A	ENST00000488034.1	-	6	602	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000440279.3_Silent_p.L138L|CUTA_ENST00000488478.1_Missense_Mutation_p.P144L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000374496.3_Silent_p.L138L	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	161					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						ACCCACTGCAGGTACGGAAAG	0.537																																						ENST00000488478.1																		SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(430-432)cCt>cTt		cutA divalent cation tolerance homolog (E. coli)							116.0	98.0	104.0					6																	33384486		2203	4300	6503	SO:0001819	synonymous_variant	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33384486G>A	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.481C>T	6.37:g.33384486G>A						CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Silent_p.L161L|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000440279.3_Silent_p.L138L|CUTA_ENST00000374496.3_Silent_p.L138L	p.P144L			O60888	CUTA_HUMAN			5	516	-			0					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.431C>T	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548375	0.13312	.	.	ENSG00000112514	ENST00000488478	.	.	.	4.98	2.27	0.28462	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22661	-1.0210	4	.	.	.	-13.6706	6.7242	0.23346	0.2888:0.0:0.7112:0.0	.	.	.	.	L	144	.	.	P	-	2	0	CUTA	33492464	1.000000	0.71417	0.435000	0.26784	0.265000	0.26407	4.980000	0.63812	0.301000	0.22738	-0.136000	0.14681	CCT		0.537	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		3	58	0	0	0	1	0	3	58				
PTPRG	5793	broad.mit.edu	37	3	62257083	62257083	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:62257083G>A	ENST00000474889.1	+	21	3412	c.3035G>A	c.(3034-3036)cGt>cAt	p.R1012H	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1012	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCCAAGGGTCGTCAGAATGAA	0.468																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3034-3036)cGt>cAt		protein tyrosine phosphatase, receptor type, G							89.0	91.0	90.0					3																	62257083		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62257083G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3035G>A	3.37:g.62257083G>A	ENSP00000418112:p.Arg1012His					PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	p.R1012H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	21	3412	+			1012			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3035G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455017	0.84209	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11385	2.78;2.78	5.74	5.74	0.90152	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.053188	0.64402	D	0.000001	T	0.34135	0.0887	M	0.66506	2.035	0.51482	D	0.999926	P;D;D	0.89917	0.95;0.996;1.0	P;P;D	0.70487	0.467;0.813;0.969	T	0.01345	-1.1379	10	0.87932	D	0	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	258;983;1012	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	1012;983	ENSP00000418112:R1012H;ENSP00000295874:R983H	ENSP00000295874:R983H	R	+	2	0	PTPRG	62232123	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	5.346000	0.65992	2.722000	0.93159	0.591000	0.81541	CGT		0.468	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	56	0	0	0	1	0	6	56				
LOC150776	150776	broad.mit.edu	37	2	132274498	132274498	+	RNA	SNP	C	C	T	rs539647182		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr2:132274498C>T	ENST00000438378.2	+	0	1540					NR_026922.1																						CTTCAGGCAGCGACTCCCAGC	0.632																																						ENST00000438378.2																			0																																																			0							g.chr2:132274498C>T																													2.37:g.132274498C>T								NR_026922.1						0	1540	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.632	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			3	51	0	0	0	1	0	3	51				
UBR4	23352	broad.mit.edu	37	1	19481549	19481549	+	Silent	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:19481549C>T	ENST00000375254.3	-	44	6348	c.6321G>A	c.(6319-6321)gcG>gcA	p.A2107A	UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375267.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6319-6321)gcG>gcA		ubiquitin protein ligase E3 component n-recognin 4							143.0	128.0	133.0					1																	19481549		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19481549C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6321G>A	1.37:g.19481549C>T						UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	p.A2107A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	44	6324	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2107					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.6321G>A	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		10	151	0	0	0	1	0	10	151				
PIK3CG	5294	broad.mit.edu	37	7	106513199	106513199	+	Silent	SNP	T	T	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:106513199T>C	ENST00000359195.3	+	4	2413	c.2103T>C	c.(2101-2103)agT>agC	p.S701S	PIK3CG_ENST00000440650.2_Silent_p.S701S|PIK3CG_ENST00000496166.1_Silent_p.S701S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	701	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTGAGAAGTGAGATAGCCC	0.448																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2101-2103)agT>agC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							109.0	108.0	109.0					7																	106513199		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513199T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2103T>C	7.37:g.106513199T>C						PIK3CG_ENST00000440650.2_Silent_p.S701S|PIK3CG_ENST00000496166.1_Silent_p.S701S	p.S701S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			4	2413	+			701					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2103T>C	CCDS5739.1																																																																																				0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			23	36	0	0	0	1	0	23	36				
NETO1	81832	broad.mit.edu	37	18	70423359	70423359	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr18:70423359A>C	ENST00000327305.6	-	8	1549	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V	NETO1_ENST00000299430.2_Missense_Mutation_p.F297V|NETO1_ENST00000583169.1_Missense_Mutation_p.F298V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	298	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGGCAGAAGAATGTGTTG	0.353																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(892-894)Ttc>Gtc		neuropilin (NRP) and tolloid (TLL)-like 1							100.0	96.0	97.0					18																	70423359		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70423359A>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.892T>G	18.37:g.70423359A>C	ENSP00000313088:p.Phe298Val					NETO1_ENST00000583169.1_Missense_Mutation_p.F298V|NETO1_ENST00000299430.2_Missense_Mutation_p.F297V	p.F298V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	8	1549	-		Esophageal squamous(42;0.129)	298			LDL-receptor class A.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.892T>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349816	0.82132	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	D;D	0.95238	-3.65;-3.65	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000035	D	0.96494	0.8856	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.80764	0.986;0.994	D	0.96705	0.9521	10	0.56958	D	0.05	-14.5672	15.7499	0.77976	1.0:0.0:0.0:0.0	.	297;298	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	V	298;297	ENSP00000313088:F298V;ENSP00000299430:F297V	ENSP00000299430:F297V	F	-	1	0	NETO1	68574339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.188000	0.69820	0.533000	0.62120	TTC		0.353	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		21	34	0	0	0	1	0	21	34				
TMEM184B	25829	broad.mit.edu	37	22	38641959	38641959	+	Missense_Mutation	SNP	C	C	T	rs201541960		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr22:38641959C>T	ENST00000361906.3	-	3	548	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	114						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CAGTCGCGGACGGTGCCGAAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		12454	0.001		0.0	False		,,,				2504	0.0					ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(340-342)Gtc>Atc		transmembrane protein 184B							75.0	61.0	66.0					22																	38641959		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38641959C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.340G>A	22.37:g.38641959C>T	ENSP00000355210:p.Val114Ile					TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I	p.V114I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			3	548	-	Melanoma(58;0.045)		114					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.340G>A	CCDS13969.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.17	1.559682	0.27827	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.40756	1.02;1.02;1.02	4.53	4.53	0.55603	.	0.124112	0.53938	D	0.000048	T	0.23846	0.0577	N	0.11023	0.085	0.80722	D	1	B	0.20550	0.046	B	0.18263	0.021	T	0.08953	-1.0697	10	0.07175	T	0.84	.	17.2945	0.87167	0.0:1.0:0.0:0.0	.	114	Q9Y519	T184B_HUMAN	I	114;114;48	ENSP00000355210:V114I;ENSP00000354441:V114I;ENSP00000385608:V48I	ENSP00000354441:V114I	V	-	1	0	TMEM184B	36971905	0.995000	0.38212	0.976000	0.42696	0.683000	0.39861	3.198000	0.51035	2.060000	0.61445	0.549000	0.68633	GTC		0.647	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		17	22	0	0	0	1	0	17	22				
SOX8	30812	broad.mit.edu	37	16	1033810	1033810	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:1033810T>G	ENST00000293894.3	+	2	620	c.505T>G	c.(505-507)Tac>Gac	p.Y169D	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	169					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCACCCCGACTACAAGTACCA	0.682																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(505-507)Tac>Gac		SRY (sex determining region Y)-box 8							50.0	45.0	47.0					16																	1033810		2198	4300	6498	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1033810T>G	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.505T>G	16.37:g.1033810T>G	ENSP00000293894:p.Tyr169Asp						p.Y169D	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			2	620	+		Hepatocellular(780;0.00308)	169					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.505T>G	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	T	32	5.175144	0.94807	.	.	ENSG00000005513	ENST00000293894	D	0.97642	-4.47	4.77	4.77	0.60923	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98669	1.0687	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.0:1.0	.	169	P57073	SOX8_HUMAN	D	169	ENSP00000293894:Y169D	ENSP00000293894:Y169D	Y	+	1	0	SOX8	973811	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.029000	0.70895	1.911000	0.55334	0.533000	0.62120	TAC		0.682	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			3	40	0	0	0	1	0	3	40				
MUC5B	727897	broad.mit.edu	37	11	1266624	1266624	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:1266624G>T	ENST00000529681.1	+	31	8572	c.8514G>T	c.(8512-8514)agG>agT	p.R2838S	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2841S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2838	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTCCAGGACCACGGCCA	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8521-8523)agG>agT		mucin 5B, oligomeric mucus/gel-forming							70.0	92.0	85.0					11																	1266624		2025	4087	6112	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266624G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8514G>T	11.37:g.1266624G>T	ENSP00000436812:p.Arg2838Ser					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R2838S	p.R2841S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8581	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2838	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8523G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.415	0.076788	0.08485	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.39	2.17	-2.04	0.07343	.	.	.	.	.	T	0.12347	0.0300	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.26883	-1.0090	9	0.87932	D	0	.	7.8868	0.29655	0.1265:0.5808:0.2927:0.0	.	3421;2841	A7Y9J9;E9PBJ0	.;.	S	2838;2841;2810;2798	ENSP00000436812:R2838S;ENSP00000415793:R2841S	ENSP00000343037:R2810S	R	+	3	2	MUC5B	1223200	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.213000	0.02991	-0.669000	0.05289	0.430000	0.28490	AGG		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		21	41	1	0	8.24728e-16	1	9.20947e-16	21	41				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		3	49	0	0	0	1	0	3	49				
HSF5	124535	broad.mit.edu	37	17	56565351	56565351	+	Silent	SNP	G	G	A	rs559562864		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:56565351G>A	ENST00000323777.3	-	1	394	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	95					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCCGGCCCGCCCAGCACCA	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		11561	0.0		0.001	False		,,,				2504	0.0					ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(283-285)ggC>ggT		heat shock transcription factor family member 5							24.0	26.0	25.0					17																	56565351		2196	4294	6490	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565351G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.285C>T	17.37:g.56565351G>A							p.G95G	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	394	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		95					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.285C>T	CCDS32690.1																																																																																				0.682	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		3	44	0	0	0	1	0	3	44				
YEATS2	55689	broad.mit.edu	37	3	183474355	183474355	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:183474355G>A	ENST00000305135.5	+	12	1625	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	477					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCATTGCCTCGAACCCCGACT	0.433																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1429-1431)cGa>cAa		YEATS domain containing 2							107.0	111.0	110.0					3																	183474355		1919	4115	6034	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183474355G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1430G>A	3.37:g.183474355G>A	ENSP00000306983:p.Arg477Gln						p.R477Q	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	1625	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		477					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1430G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554076	0.96501	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29397	1.57	5.71	5.71	0.89125	.	0.161252	0.41396	D	0.000885	T	0.37571	0.1008	L	0.27053	0.805	0.54753	D	0.999988	D	0.76494	0.999	P	0.55545	0.778	T	0.03807	-1.1002	10	0.39692	T	0.17	-13.6876	18.0482	0.89340	0.0:0.0:1.0:0.0	.	477	Q9ULM3	YETS2_HUMAN	Q	477	ENSP00000306983:R477Q	ENSP00000306983:R477Q	R	+	2	0	YEATS2	184957049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.388000	0.73195	2.709000	0.92574	0.655000	0.94253	CGA		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		13	137	0	0	0	1	0	13	137				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		6	150	0	0	0	1	0	6	150				
SEPN1	57190	broad.mit.edu	37	1	26135249	26135249	+	Missense_Mutation	SNP	G	G	A	rs199709671		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:26135249G>A	ENST00000374315.1	+	4	652	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000361547.2_Missense_Mutation_p.R239H	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	239						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAACAACCGCTTCTATCCA	0.667																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(715-717)cGc>cAc		selenoprotein N, 1		G	HIS/ARG,HIS/ARG	0,4112		0,0,2056	58.0	65.0	62.0		716,614	4.9	1.0	1		62	2,8382		0,2,4190	yes	missense,missense	SEPN1	NM_020451.2,NM_206926.1	29,29	0,2,6246	AA,AG,GG		0.0239,0.0,0.016	probably-damaging,probably-damaging	239/591,205/557	26135249	2,12494	2056	4192	6248	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135249G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.614G>A	1.37:g.26135249G>A	ENSP00000363434:p.Arg205His					SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000374315.1_Missense_Mutation_p.R205H	p.R239H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	5	771	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	239					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.716G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641818	0.87859	0.0	2.39E-4	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.91407	-2.84;-2.8;-2.8	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.67953	2.075	0.80722	D	1	D;P	0.55800	0.973;0.954	P;B	0.46110	0.504;0.307	D	0.91520	0.5234	10	0.72032	D	0.01	-27.4492	14.3565	0.66740	0.0706:0.0:0.9294:0.0	.	205;239	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	239;205;205	ENSP00000355141:R239H;ENSP00000346109:R205H;ENSP00000363434:R205H	ENSP00000346109:R205H	R	+	2	0	SEPN1	26007836	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	7.816000	0.86201	2.768000	0.95171	0.561000	0.74099	CGC		0.667	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		4	145	0	0	0	1	0	4	145				
AGO2	27161	broad.mit.edu	37	8	141567248	141567248	+	Silent	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr8:141567248G>A	ENST00000220592.5	-	8	1078	c.966C>T	c.(964-966)taC>taT	p.Y322Y	AGO2_ENST00000519980.1_Silent_p.Y322Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	322	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGAGGTGGGGGTAGCGCAGAA	0.587																																						ENST00000220592.5																			0											c.(964-966)taC>taT		argonaute RISC catalytic component 2							165.0	159.0	161.0					8																	141567248		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141567248G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.966C>T	8.37:g.141567248G>A						AGO2_ENST00000519980.1_Silent_p.Y322Y	p.Y322Y	NM_012154.3	NP_036286.2					8	1078	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.966C>T	CCDS6380.1																																																																																				0.587	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			4	184	0	0	0	1	0	4	184				
RERE	473	broad.mit.edu	37	1	8418294	8418294	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:8418294G>A	ENST00000337907.3	-	21	4935	c.4301C>T	c.(4300-4302)tCc>tTc	p.S1434F	RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S880F|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1434	His-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gtggaggtgggagtgaatgtg	0.642																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4300-4302)tCc>tTc		arginine-glutamic acid dipeptide (RE) repeats							133.0	109.0	117.0					1																	8418294		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418294G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4301C>T	1.37:g.8418294G>A	ENSP00000338629:p.Ser1434Phe					RERE_ENST00000476556.1_Missense_Mutation_p.S880F|RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F	p.S1434F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4935	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1434			His-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4301C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619018	0.87460	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.59906	0.23;0.25;0.23	5.61	5.61	0.85477	.	.	.	.	.	T	0.76955	0.4060	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.78558	-0.2158	9	0.87932	D	0	-15.0624	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1434	Q9P2R6	RERE_HUMAN	F	1434;1166;880;1434	ENSP00000338629:S1434F;ENSP00000366684:S1166F;ENSP00000383700:S1434F	ENSP00000338629:S1434F	S	-	2	0	RERE	8340881	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	9.723000	0.98772	2.793000	0.96121	0.655000	0.94253	TCC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			15	12	0	0	0	1	0	15	12				
SCNN1A	6337	broad.mit.edu	37	12	6471351	6471351	+	Silent	SNP	C	C	T	rs574585318		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:6471351C>T	ENST00000228916.2	-	4	839	c.741G>A	c.(739-741)gcG>gcA	p.A247A	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000358945.3_Silent_p.A247A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	247					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACTCCCTCACCGCATCCACCC	0.567																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(739-741)gcG>gcA		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						178.0	126.0	144.0					12																	6471351		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6471351C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.741G>A	12.37:g.6471351C>T						SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000228916.2_Silent_p.A247A	p.A247A			P37088	SCNNA_HUMAN			3	1181	-			247					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.741G>A	CCDS8543.1																																																																																				0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			11	108	0	0	0	1	0	11	108				
C7orf31	136895	broad.mit.edu	37	7	25176304	25176304	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:25176304G>A	ENST00000409280.1	-	10	1368	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	354										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGACAGGAACGTGGTCTTTGC	0.458																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1060-1062)Cgt>Tgt		chromosome 7 open reading frame 31							117.0	120.0	119.0					7																	25176304		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25176304G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1060C>T	7.37:g.25176304G>A	ENSP00000386604:p.Arg354Cys					C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C	p.R354C			Q8N865	CG031_HUMAN			10	1368	-			354					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1060C>T	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	4.704	0.130914	0.08981	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.75	0.495	0.16890	.	1.150600	0.06146	N	0.673264	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	P	0.49358	0.923	B	0.38712	0.28	T	0.22765	-1.0207	10	0.54805	T	0.06	-4.808	1.6533	0.02776	0.1607:0.1325:0.4018:0.305	.	354	Q8N865	CG031_HUMAN	C	354	ENSP00000386604:R354C;ENSP00000283905:R354C	ENSP00000283905:R354C	R	-	1	0	C7orf31	25142829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.195000	0.10382	-0.218000	0.12543	CGT		0.458	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		3	116	0	0	0	1	0	3	116				
OR51S1	119692	broad.mit.edu	37	11	4869891	4869891	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:4869891G>A	ENST00000322101.2	-	1	623	c.548C>T	c.(547-549)aCc>aTc	p.T183I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAGAATGGGTTAGGACCTG	0.542																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(547-549)aCc>aTc		olfactory receptor, family 51, subfamily S, member 1							102.0	107.0	105.0					11																	4869891		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869891G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.548C>T	11.37:g.4869891G>A	ENSP00000322754:p.Thr183Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.T183I	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	623	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	183					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.548C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248115	0.59103	.	.	ENSG00000176922	ENST00000322101	T	0.37411	1.2	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.150168	0.31312	N	0.007867	T	0.41488	0.1161	M	0.65975	2.015	0.26178	N	0.979761	B	0.25850	0.136	B	0.24701	0.055	T	0.42498	-0.9448	10	0.72032	D	0.01	-19.9908	17.5702	0.87933	0.0:0.0:1.0:0.0	.	183	Q8NGJ8	O51S1_HUMAN	I	183	ENSP00000322754:T183I	ENSP00000322754:T183I	T	-	2	0	OR51S1	4826467	0.010000	0.17322	0.940000	0.37924	0.871000	0.50021	1.751000	0.38339	2.729000	0.93468	0.655000	0.94253	ACC		0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		5	129	0	0	0	1	0	5	129				
RTKN2	219790	broad.mit.edu	37	10	63959566	63959566	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:63959566C>T	ENST00000373789.3	-	11	1337	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	414					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGGTGGTTTCCGTGGTGACAT	0.378																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1240-1242)cGg>cAg		rhotekin 2							149.0	128.0	135.0					10																	63959566		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63959566C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1241G>A	10.37:g.63959566C>T	ENSP00000362894:p.Arg414Gln					RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q	p.R414Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			11	1337	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		414					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1241G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605560	0.66445	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.79845	-1.31;-1.31;-1.31	4.78	4.78	0.61160	.	0.056204	0.64402	D	0.000001	T	0.75324	0.3834	L	0.56280	1.765	0.46564	D	0.999102	D;D	0.56968	0.978;0.966	B;B	0.41440	0.357;0.205	T	0.78178	-0.2305	10	0.52906	T	0.07	-12.3378	11.6664	0.51376	0.0:0.9175:0.0:0.0825	.	216;414	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	Q	216;435;414	ENSP00000325379:R216Q;ENSP00000378682:R435Q;ENSP00000362894:R414Q	ENSP00000325379:R216Q	R	-	2	0	RTKN2	63629572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.439000	0.59968	2.374000	0.81015	0.655000	0.94253	CGG		0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		21	50	0	0	0	1	0	21	50				
SYNPO	11346	broad.mit.edu	37	5	150029062	150029062	+	Silent	SNP	A	A	C			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:150029062A>C	ENST00000394243.1	+	3	2331	c.1957A>C	c.(1957-1959)Agg>Cgg	p.R653R	SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000519664.1_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	653					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGCGGCAGAGGGACCAGGG	0.632																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1957-1959)Agg>Cgg		synaptopodin							19.0	22.0	21.0					5																	150029062		2203	4298	6501	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029062A>C	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1957A>C	5.37:g.150029062A>C						SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000519664.1_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R	p.R653R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2331	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	653					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.1957A>C	CCDS54937.1																																																																																				0.632	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	18	0	0	0	1	0	9	18				
NOTCH2	4853	broad.mit.edu	37	1	120611955	120611955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:120611955delG	ENST00000256646.2	-	1	285	c.66delC	c.(64-66)cccfs	p.P22fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	22					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGCGCGGGGGCCGCGC	0.756			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(64-66)ccfs		notch 2							6.0	8.0	7.0					1																	120611955		1679	3692	5371	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120611955delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.66delC	1.37:g.120611955delG	ENSP00000256646:p.Pro22fs						p.P22fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	285	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	22					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.66delC	CCDS908.1																																																																																				0.756	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		2	4						2	4	---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24544582	24544582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr4:24544582delG	ENST00000336812.4	-	7	1472	c.1316delC	c.(1315-1317)cctfs	p.P439fs		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	439	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CGCAAATCCAGGATCAATCAC	0.313																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1315-1317)ctfs		DEAH (Asp-Glu-Ala-His) box helicase 15							128.0	121.0	123.0					4																	24544582		2203	4300	6503	SO:0001589	frameshift_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24544582delG	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1316delC	4.37:g.24544582delG	ENSP00000336741:p.Pro439fs						p.P439fs	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			7	1472	-		Breast(46;0.0503)	439			Helicase C-terminal.		Q9NQT7	Frame_Shift_Del	DEL	ENST00000336812.4	37	c.1316delC	CCDS33966.1																																																																																				0.313	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		17	107						17	107	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30882973	30882975	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:30882973_30882975delTAG	ENST00000321897.5	+	2	874_876	c.242_244delTAG	c.(241-246)ttagta>tta	p.V82del	VARS2_ENST00000416670.2_In_Frame_Del_p.V82del|VARS2_ENST00000541562.1_In_Frame_Del_p.V112del|VARS2_ENST00000542001.1_5'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	82					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCTAAGGAGTTAGTATTGTATGA	0.468																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(241-246)tta>t		valyl-tRNA synthetase 2, mitochondrial																																				SO:0001651	inframe_deletion	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30882973_30882975delTAG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.242_244delTAG	6.37:g.30882973_30882975delTAG	ENSP00000316092:p.Val82del					VARS2_ENST00000416670.2_In_Frame_Del_p.LV81del|VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_In_Frame_Del_p.LV111del	p.LV81del			Q5ST30	SYVM_HUMAN			2	874_876	+			81					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	In_Frame_Del	DEL	ENST00000321897.5	37	c.242_244delTAG	CCDS34387.1																																																																																				0.468	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		20	79						20	79	---	---	---	---
EXOSC6	118460	broad.mit.edu	37	16	70287871	70287871	+	5'Flank	DEL	T	T	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:70287871delT	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Frame_Shift_Del_p.K824fs	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ATCCATGACCTTCTTTAGGGA	0.552											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2470-2472)agfs		alanyl-tRNA synthetase	L-Alanine(DB00160)						121.0	116.0	118.0					16																	70287871		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287871delT	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287871delT	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.K824fs	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2614	-		Ovarian(137;0.0365)	824						Frame_Shift_Del	DEL	ENST00000435634.1	37	c.2471delA	CCDS10887.1																																																																																				0.552	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		28	165						28	165	---	---	---	---
RP11-795H16.3	0	broad.mit.edu	37	18	57816806	57816806	+	lincRNA	DEL	C	C	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr18:57816806delC	ENST00000588794.1	+	0	346																											CTGACCAGCACCATGGTGGTG	0.478																																						ENST00000588794.1																			0																																																			0							g.chr18:57816806delC																													18.37:g.57816806delC														0	346	+									RNA	DEL	ENST00000588794.1	37																																																																																						0.478	RP11-795H16.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000449080.1			2	4						2	4	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		8	229						8	229	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		2	4						2	4	---	---	---	---
