#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
PTENP1	11191	broad.mit.edu	37	9	33675379	33675379	+	RNA	SNP	C	C	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr9:33675379C>A	ENST00000532280.1	-	0	2118					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAAAAGGTCCCTTTTCAGTTT	0.318																																						ENST00000532280.1																			0																																																			0							g.chr9:33675379C>A	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675379C>A								NR_023917.1						0	2118	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.318	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	29	1	0	1	1	1	3	29				
EGFLAM	133584	broad.mit.edu	37	5	38438486	38438486	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr5:38438486G>A	ENST00000354891.3	+	17	2739	c.2393G>A	c.(2392-2394)aGc>aAc	p.S798N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S798N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S564N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S164N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	798	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATGGGGGCAGCTGCCGGCCC	0.607																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2392-2394)aGc>aAc		EGF-like, fibronectin type III and laminin G domains							41.0	42.0	42.0					5																	38438486		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38438486G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2393G>A	5.37:g.38438486G>A	ENSP00000346964:p.Ser798Asn					EGFLAM_ENST00000354891.3_Missense_Mutation_p.S798N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S564N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S164N	p.S798N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			17	2739	+	all_lung(31;0.000385)		798			EGF-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2393G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340872	0.60963	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.92299	-1.21;-1.21;-1.21;-3.01	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.084821	0.85682	D	0.000000	D	0.90435	0.7005	L	0.45581	1.43	0.80722	D	1	P;P;P	0.47762	0.9;0.745;0.696	B;B;B	0.43990	0.39;0.276;0.438	D	0.90228	0.4277	10	0.44086	T	0.13	-4.3824	16.5568	0.84487	0.0:0.1987:0.8013:0.0	.	564;798;798	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	798;798;564;164;564	ENSP00000346964:S798N;ENSP00000313084:S798N;ENSP00000337607:S564N;ENSP00000380385:S164N	ENSP00000313084:S798N	S	+	2	0	EGFLAM	38474243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.855000	0.39378	2.696000	0.92011	0.655000	0.94253	AGC		0.607	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	22	0	0	0	1	0	3	22				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	42	0	0	0	1	0	3	42				
FSTL5	56884	broad.mit.edu	37	4	162697126	162697126	+	Silent	SNP	G	G	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr4:162697126G>A	ENST00000306100.5	-	5	946	c.510C>T	c.(508-510)ggC>ggT	p.G170G	FSTL5_ENST00000427802.2_Silent_p.G169G|FSTL5_ENST00000379164.4_Silent_p.G169G|FSTL5_ENST00000536695.1_Silent_p.G169G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	170						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATATGTCGTCGCCATTAGGAT	0.308																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(508-510)ggC>ggT		follistatin-like 5							95.0	94.0	94.0					4																	162697126		2203	4294	6497	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162697126G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.510C>T	4.37:g.162697126G>A						FSTL5_ENST00000427802.2_Silent_p.G169G|FSTL5_ENST00000536695.1_Silent_p.G169G|FSTL5_ENST00000379164.4_Silent_p.G169G	p.G170G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	946	-	all_hematologic(180;0.24)		170					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.510C>T	CCDS3802.1																																																																																				0.308	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		7	48	0	0	0	1	0	7	48				
CD48	962	broad.mit.edu	37	1	160651208	160651208	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr1:160651208C>T	ENST00000368046.3	-	3	523	c.436G>A	c.(436-438)Gac>Aac	p.D146N	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	146	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAACAGTTGTCATCCATGTCT	0.458																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(436-438)Gac>Aac		CD48 molecule							184.0	166.0	172.0					1																	160651208		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651208C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.436G>A	1.37:g.160651208C>T	ENSP00000357025:p.Asp146Asn					RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	p.D146N	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	523	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		146			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.436G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.575737	0.00887	.	.	ENSG00000117091	ENST00000368046	T	0.38240	1.15	3.38	1.03	0.20045	Immunoglobulin-like (1);	1.201710	0.05686	N	0.591370	T	0.05686	0.0149	N	0.21373	0.66	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22452	-1.0216	10	0.02654	T	1	0.0141	4.6766	0.12715	0.0:0.4723:0.0:0.5277	.	146;146	Q6IAZ2;P09326	.;CD48_HUMAN	N	146	ENSP00000357025:D146N	ENSP00000357025:D146N	D	-	1	0	CD48	158917832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.457000	0.21875	0.200000	0.20447	-0.302000	0.09304	GAC		0.458	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		21	100	0	0	0	1	0	21	100				
JAZF1	221895	broad.mit.edu	37	7	27872484	27872484	+	Missense_Mutation	SNP	G	G	A	rs562255429		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr7:27872484G>A	ENST00000283928.5	-	5	832	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	223					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTGTGGTGCCGCAGGCCCTGA	0.488			T	SUZ12	endometrial stromal tumours								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17379	0.0		0.0	False		,,,				2504	0.0					ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(667-669)Cgg>Tgg		JAZF zinc finger 1							167.0	152.0	157.0					7																	27872484		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872484G>A	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.667C>T	7.37:g.27872484G>A	ENSP00000283928:p.Arg223Trp					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron	p.R223W	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			5	832	-			223					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.667C>T	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468722	0.63625	.	.	ENSG00000153814	ENST00000283928	T	0.79247	-1.25	6.17	5.25	0.73442	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88631	0.3169	10	0.87932	D	0	-15.3027	16.4205	0.83757	0.0:0.0:0.868:0.132	.	223	Q86VZ6	JAZF1_HUMAN	W	223	ENSP00000283928:R223W	ENSP00000283928:R223W	R	-	1	2	JAZF1	27839009	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.499000	0.45372	2.941000	0.99782	0.655000	0.94253	CGG		0.488	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		4	95	0	0	0	1	0	4	95				
TPO	7173	broad.mit.edu	37	2	1426846	1426846	+	Missense_Mutation	SNP	G	G	A	rs147325430		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr2:1426846G>A	ENST00000345913.4	+	3	215	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	42					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTCTCTAGCGTCTTGGAGGA	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(124-126)Gtc>Atc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4401	8.1+/-20.4	0,5,2198	122.0	98.0	106.0		124,124,124,124,124,124	-6.0	0.0	2	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign,benign,benign	42/934,42/934,42/877,42/877,42/890,42/761	1426846	5,13001	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426846G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.124G>A	2.37:g.1426846G>A	ENSP00000318820:p.Val42Ile					TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I	p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	215	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	42					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.124G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207709	0.06180	0.001135	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	3.72	-6.03	0.02185	.	1.395640	0.05248	N	0.513418	T	0.28333	0.0700	N	0.02736	-0.51	0.09310	N	1	B;B;B;B;B	0.15473	0.003;0.0;0.013;0.007;0.004	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.29397	-1.0013	10	0.14656	T	0.56	-2.3701	11.1947	0.48707	0.4161:0.0:0.5839:0.0	.	42;42;42;42;42	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	42	ENSP00000371704:V42I;ENSP00000337263:V42I;ENSP00000318820:V42I;ENSP00000263886:V42I;ENSP00000332044:V42I;ENSP00000444840:V42I;ENSP00000329869:V42I;ENSP00000371636:V42I;ENSP00000390994:V42I;ENSP00000371633:V42I	ENSP00000329869:V42I	V	+	1	0	TPO	1405853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.000000	0.03693	-1.256000	0.02478	-1.740000	0.00687	GTC		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		4	43	0	0	0	1	0	4	43				
PNISR	25957	broad.mit.edu	37	6	99852521	99852521	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr6:99852521T>G	ENST00000369239.5	-	9	1264	c.1060A>C	c.(1060-1062)Att>Ctt	p.I354L	PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACGTAATAAATTTCTTCATCT	0.343																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)Att>Ctt		PNN-interacting serine/arginine-rich protein							122.0	118.0	119.0					6																	99852521		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99852521T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1060A>C	6.37:g.99852521T>G	ENSP00000358242:p.Ile354Leu					PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	p.I354L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			9	1264	-			354					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1060A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771279	0.69992	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.41065	1.01;1.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.60455	1.87	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.46830	-0.9163	10	0.37606	T	0.19	.	15.4943	0.75637	0.0:0.0:0.0:1.0	.	354	Q8TF01	PNISR_HUMAN	L	354	ENSP00000358242:I354L;ENSP00000387997:I354L	ENSP00000358242:I354L	I	-	1	0	PNISR	99959242	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.818000	0.69236	2.059000	0.61396	0.523000	0.50628	ATT		0.343	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		7	45	0	0	0	1	0	7	45				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	89	0	0	0	1	0	6	89				
CYP4F11	57834	broad.mit.edu	37	19	16040304	16040304	+	Silent	SNP	G	G	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr19:16040304G>A	ENST00000402119.4	-	2	732	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F11_ENST00000248041.8_Silent_p.C102C|CYP4F11_ENST00000326742.8_Silent_p.C102C|CYP4F11_ENST00000591841.1_5'Flank	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTCAGGGTGGCATAAAATGA	0.562																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 11							153.0	154.0	154.0					19																	16040304		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040304G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.306C>T	19.37:g.16040304G>A						CYP4F11_ENST00000402119.3_Silent_p.C102C|CYP4F11_ENST00000248041.7_Silent_p.C102C	p.C102C			Q9HBI6	CP4FB_HUMAN			2	307	-			102						Silent	SNP	ENST00000402119.4	37	c.306C>T	CCDS12337.1																																																																																				0.562	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	175	0	0	0	1	0	4	175				
INHBC	3626	broad.mit.edu	37	12	57843452	57843452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr12:57843452C>T	ENST00000309668.2	+	2	833	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	236					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GATTCACCGACGAGGCATCGA	0.582																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(706-708)Cga>Tga		inhibin, beta C							86.0	78.0	81.0					12																	57843452		2203	4300	6503	SO:0001587	stop_gained	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843452C>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.706C>T	12.37:g.57843452C>T	ENSP00000308716:p.Arg236*					INHBC_ENST00000550133.1_Intron	p.R236*	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	833	+			236					A1L3Y2	Nonsense_Mutation	SNP	ENST00000309668.2	37	c.706C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764409	0.89932	.	.	ENSG00000175189	ENST00000309668	.	.	.	3.89	3.89	0.44902	.	0.234953	0.34002	N	0.004348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1957	15.8415	0.78848	0.0:1.0:0.0:0.0	.	.	.	.	X	236	.	.	R	+	1	2	INHBC	56129719	0.993000	0.37304	0.998000	0.56505	0.809000	0.45718	3.008000	0.49544	2.484000	0.83849	0.650000	0.86243	CGA		0.582	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		4	55	0	0	0	1	0	4	55				
METTL4	64863	broad.mit.edu	37	18	2539121	2539121	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr18:2539121G>C	ENST00000574538.1	-	9	2072	c.1297C>G	c.(1297-1299)Cca>Gca	p.P433A	METTL4_ENST00000319888.6_Missense_Mutation_p.A402G	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	433					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCCCATCTGGCTTGATGTAG	0.343																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1204-1206)gCc>gGc		methyltransferase like 4							82.0	84.0	83.0					18																	2539121		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2539121G>C		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1297C>G	18.37:g.2539121G>C	ENSP00000458290:p.Pro433Ala					METTL4_ENST00000574538.1_Missense_Mutation_p.P433A	p.A402G			Q8N3J2	METL4_HUMAN			8	2003	-			0					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1205C>G	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701214	0.30142	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.19	5.19	0.71726	.	0.136296	0.48767	D	0.000167	T	0.55816	0.1944	L	0.53729	1.69	0.39665	D	0.970667	P	0.40282	0.711	B	0.37346	0.247	T	0.62431	-0.6856	9	0.49607	T	0.09	-2.4773	18.6936	0.91592	0.0:0.0:1.0:0.0	.	433	Q8N3J2	METL4_HUMAN	A	433	.	ENSP00000320349:P433A	P	-	1	0	METTL4	2529121	1.000000	0.71417	0.938000	0.37757	0.845000	0.48019	3.511000	0.53400	2.409000	0.81822	0.655000	0.94253	CCA		0.343	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		7	74	0	0	0	1	0	7	74				
UBA7	7318	broad.mit.edu	37	3	49842264	49842264	+	IGR	SNP	G	G	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr3:49842264G>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.R236R	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCGGCGCCGGCTGGCCAGGG	0.667																																						ENST00000333323.4																			0											c.(706-708)cgG>cgA		family with sequence similarity 212, member A							58.0	68.0	65.0					3																	49842264		2203	4297	6500	SO:0001628	intergenic_variant	389119							g.chr3:49842264G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842264G>A							p.R236R	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	841	+			234					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.708G>A	CCDS2805.1																																																																																				0.667	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	90	0	0	0	1	0	4	90				
PCDHB7	56129	broad.mit.edu	37	5	140554117	140554117	+	Silent	SNP	C	C	T	rs13189269		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr5:140554117C>T	ENST00000231137.3	+	1	1875	c.1701C>T	c.(1699-1701)aaC>aaT	p.N567N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	567					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGAACAGCTCCGCGC	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1699-1701)aaC>aaT									28.0	34.0	32.0					5																	140554117		2181	4292	6473	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554117C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1701C>T	5.37:g.140554117C>T							p.N567N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1875	+			567					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1701C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	4.703	0.130812	0.08981	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	3.4	0.38934	.	.	.	.	.	T	0.65428	0.2690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68815	-0.5309	5	0.87932	D	0	.	9.4642	0.38802	0.0:0.8235:0.0:0.1765	rs13189269	.	.	.	I	350	.	ENSP00000440828:T350I	T	+	2	0	PCDHB7	140534301	0.000000	0.05858	0.983000	0.44433	0.715000	0.41141	-0.337000	0.07852	2.099000	0.63709	0.449000	0.29647	ACA		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	88	0	0	0	1	0	4	88				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	37	0	0	0	1	0	3	37				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	32	0	0	0	1	0	3	32				
TEKT3	64518	broad.mit.edu	37	17	15207272	15207272	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:15207272C>T	ENST00000395930.1	-	9	1640	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	TEKT3_ENST00000338696.2_Missense_Mutation_p.R485Q|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	485					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GCCGACCAGCCGGAGGGTGTT	0.532																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1453-1455)cGg>cAg		tektin 3							106.0	93.0	97.0					17																	15207272		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207272C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1454G>A	17.37:g.15207272C>T	ENSP00000379263:p.Arg485Gln					TEKT3_ENST00000338696.2_Missense_Mutation_p.R485Q|TEKT3_ENST00000462175.1_5'UTR	p.R485Q	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1640	-			485					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1454G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846160	0.51164	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02944	4.1;4.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	L	0.60957	1.885	0.38308	D	0.943179	P	0.49090	0.919	B	0.40534	0.332	T	0.39165	-0.9627	10	0.46703	T	0.11	-3.111	10.9563	0.47360	0.0:0.8547:0.0:0.1453	.	485	Q9BXF9	TEKT3_HUMAN	Q	485	ENSP00000379263:R485Q;ENSP00000343995:R485Q	ENSP00000343995:R485Q	R	-	2	0	TEKT3	15147997	0.998000	0.40836	0.907000	0.35723	0.974000	0.67602	5.656000	0.67988	2.680000	0.91292	0.561000	0.74099	CGG		0.532	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		3	43	0	0	0	1	0	3	43				
KIAA0907	22889	broad.mit.edu	37	1	155887387	155887387	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr1:155887387T>G	ENST00000368321.3	-	11	1366	c.1343A>C	c.(1342-1344)cAg>cCg	p.Q448P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q448P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.577																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1342-1344)cAg>cCg		KIAA0907							21.0	26.0	24.0					1																	155887387		2157	4280	6437	SO:0001583	missense	22889							g.chr1:155887387T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1343A>C	1.37:g.155887387T>G	ENSP00000357304:p.Gln448Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q448P	p.Q448P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1368	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		448			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1343A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059571	0.55325	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.26373	1.74;1.74	5.38	-0.0592	0.13794	.	0.293405	0.37906	N	0.001888	T	0.05090	0.0136	N	0.08118	0	0.33304	D	0.565248	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	10	0.40728	T	0.16	-0.087	14.4393	0.67303	0.0:0.0:0.4509:0.5491	.	448;448	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	448	ENSP00000357304:Q448P;ENSP00000357303:Q448P	ENSP00000357303:Q448P	Q	-	2	0	KIAA0907	154154011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.158000	0.19367	0.533000	0.62120	CAG		0.577	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		5	22	0	0	0	1	0	5	22				
CCDC13	152206	broad.mit.edu	37	3	42754746	42754746	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr3:42754746C>T	ENST00000310232.6	-	14	1864	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	594										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCACGGTGCGGTGTCGCTC	0.607																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1780-1782)cGc>cAc		coiled-coil domain containing 13							116.0	106.0	109.0					3																	42754746		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754746C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1781G>A	3.37:g.42754746C>T	ENSP00000309836:p.Arg594His						p.R594H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			14	1864	-			594						Missense_Mutation	SNP	ENST00000310232.6	37	c.1781G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541133	0.65085	.	.	ENSG00000244607	ENST00000310232	T	0.12774	2.65	5.26	4.39	0.52855	.	0.063670	0.64402	N	0.000014	T	0.34106	0.0886	M	0.77616	2.38	0.09310	N	0.999999	D	0.71674	0.998	D	0.63703	0.917	T	0.14364	-1.0475	10	0.59425	D	0.04	.	11.6124	0.51069	0.0:0.9126:0.0:0.0874	.	594	Q8IYE1	CCD13_HUMAN	H	594	ENSP00000309836:R594H	ENSP00000309836:R594H	R	-	2	0	CCDC13	42729750	0.758000	0.28405	0.052000	0.19188	0.792000	0.44763	2.960000	0.49161	1.228000	0.43614	0.591000	0.81541	CGC		0.607	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		4	105	0	0	0	1	0	4	105				
MYO9A	4649	broad.mit.edu	37	15	72119078	72119078	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr15:72119078T>C	ENST00000356056.5	-	42	7962	c.7490A>G	c.(7489-7491)aAg>aGg	p.K2497R	MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478R|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568R|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2497	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTTTGCCCTTTTCCGGGTT	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7489-7491)aAg>aGg		myosin IXA							160.0	164.0	163.0					15																	72119078		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119078T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7490A>G	15.37:g.72119078T>C	ENSP00000348349:p.Lys2497Arg					MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568R|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478R	p.K2497R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7962	-			2497			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7490A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745226	0.49151	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.89939	-2.57;-2.59;-2.56	5.2	2.83	0.33086	.	.	.	.	.	T	0.81264	0.4786	L	0.34521	1.04	0.44117	D	0.996897	B;B	0.21905	0.062;0.01	B;B	0.18263	0.021;0.017	T	0.72966	-0.4131	9	0.62326	D	0.03	.	6.9767	0.24679	0.1332:0.0732:0.0:0.7935	.	2497;2261	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	R	2497;2568;2478	ENSP00000348349:K2497R;ENSP00000399162:K2568R;ENSP00000398250:K2478R	ENSP00000348349:K2497R	K	-	2	0	MYO9A	69906132	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.802000	0.69122	0.278000	0.22164	-0.490000	0.04691	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	119	0	0	0	1	0	3	119				
GLOD4	51031	broad.mit.edu	37	17	663480	663480	+	Splice_Site	SNP	T	T	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:663480T>G	ENST00000301328.5	-	10	900		c.e10-2		GLOD4_ENST00000301329.6_Splice_Site|GLOD4_ENST00000575800.1_5'Flank|GLOD4_ENST00000536578.1_Splice_Site			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCCATTGCCTGTAAAATAGA	0.383																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e9-2		glyoxalase domain containing 4							144.0	124.0	131.0					17																	663480		2203	4300	6503	SO:0001630	splice_region_variant	51031					mitochondrion		g.chr17:663480T>G	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.877-2A>C	17.37:g.663480T>G						GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301328.5_Splice_Site		NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	917	-								D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Splice_Site	SNP	ENST00000301328.5	37			.	.	.	.	.	.	.	.	.	.	T	19.80	3.895077	0.72639	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLOD4	610230	1.000000	0.71417	0.990000	0.47175	0.838000	0.47535	7.708000	0.84633	2.311000	0.77944	0.533000	0.62120	.		0.383	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	Intron	4	57	0	0	0	1	0	4	57				
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			3	5						3	5	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	3						3	3	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11157492	11157493	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chrX:11157492_11157493insG	ENST00000337414.4	-	13	3287_3288	c.2415_2416insC	c.(2413-2418)cccgcgfs	p.A806fs	ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.A603fs|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.A603fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	806					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCTCCGTCGCGGGGGCTGCGG	0.733																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2413-2418)cccgacfs		Rho GTPase activating protein 6																																				SO:0001589	frameshift_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157492_11157493insG	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2416dupC	X.37:g.11157497_11157497dupG	ENSP00000338967:p.Ala806fs					ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.D603fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.D603fs	p.D806fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3287_3288	-			806					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Frame_Shift_Ins	INS	ENST00000337414.4	37	c.2415_2416insC	CCDS14140.1																																																																																				0.733	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		2	4						2	4	---	---	---	---
