#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
C1orf94	84970	broad.mit.edu	37	1	34684353	34684353	+	Silent	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:34684353A>C	ENST00000488417.1	+	7	1908	c.1788A>C	c.(1786-1788)atA>atC	p.I596I	C1orf94_ENST00000373374.3_Silent_p.I406I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	596										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAATGGCATAAACTTTTAGA	0.502																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1786-1788)atA>atC		chromosome 1 open reading frame 94							129.0	124.0	125.0					1																	34684353		2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34684353A>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1788A>C	1.37:g.34684353A>C						C1orf94_ENST00000373374.3_Silent_p.I406I	p.I596I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			7	1908	+		Myeloproliferative disorder(586;0.0393)	406					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.1788A>C	CCDS44108.1																																																																																				0.502	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		9	86	0	0	0	0.008291	0	9	86				
PPP1R14C	81706	broad.mit.edu	37	6	150569956	150569956	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:150569956A>C	ENST00000361131.4	+	4	615	c.498A>C	c.(496-498)tgA>tgC	p.*166C		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	0					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGAGTGTATGATTCTGGAACA	0.413																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(496-498)tgA>tgC		protein phosphatase 1, regulatory (inhibitor) subunit 14C							46.0	47.0	47.0					6																	150569956		2203	4300	6503	SO:0001578	stop_lost	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150569956A>C	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.498A>C	6.37:g.150569956A>C	ENSP00000355260:p.*166Cysext*21						p.*166C	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	4	615	+		Ovarian(120;0.0284)	0					Q5VY83|Q96BB1|Q9H277	Nonstop_Mutation	SNP	ENST00000361131.4	37	c.498A>C	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962734	0.53507	.	.	ENSG00000198729	ENST00000361131	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8258	0.78706	1.0:0.0:0.0:0.0	.	.	.	.	C	166	.	.	X	+	3	0	PPP1R14C	150611649	1.000000	0.71417	0.641000	0.29422	0.924000	0.55760	6.505000	0.73708	2.133000	0.65898	0.528000	0.53228	TGA		0.413	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		4	33	0	0	0	0.000602	0	4	33				
NT5C3B	115024	broad.mit.edu	37	17	39983679	39983679	+	Splice_Site	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:39983679T>C	ENST00000435506.2	-	8	836	c.767A>G	c.(766-768)aAg>aGg	p.K256R	NT5C3B_ENST00000269534.8_Splice_Site_p.K248R|NT5C3B_ENST00000521789.1_Intron			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	256					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TCTACCCACCTTGTCATTCAG	0.453																																						ENST00000269534.8																			0											c.e8+1		5'-nucleotidase, cytosolic IIIB							120.0	120.0	120.0					17																	39983679		2203	4300	6503	SO:0001630	splice_region_variant	115024							g.chr17:39983679T>C		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.768+1A>G	17.37:g.39983679T>C						NT5C3B_ENST00000435506.2_Splice_Site_p.K256_splice|NT5C3B_ENST00000521789.1_Intron	p.K248_splice	NM_052935.4	NP_443167.4					8	844	-								A8MWB9|C9JKC4|Q7L3B7	Splice_Site	SNP	ENST00000435506.2	37	c.744_splice	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360142	0.41801	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D	0.84146	-1.81;-1.81;-1.81	4.97	4.97	0.65823	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.39085	1.19	0.54753	D	0.999989	B;P	0.34757	0.241;0.467	B;B	0.33042	0.157;0.157	T	0.74318	-0.3704	10	0.31617	T	0.26	-0.3445	9.7984	0.40748	0.0:0.0815:0.0:0.9185	.	256;248	C9JKC4;Q969T7	.;5NT3L_HUMAN	R	248;290;256;226	ENSP00000269534:K248R;ENSP00000389948:K256R;ENSP00000397742:K226R	ENSP00000269534:K248R	K	-	2	0	NT5C3L	37237205	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.936000	0.63506	2.086000	0.62901	0.379000	0.24179	AAG		0.453	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935	Missense_Mutation	6	106	0	0	0	0.003080	0	6	106				
CCDC108	255101	broad.mit.edu	37	2	219892530	219892530	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:219892530T>C	ENST00000341552.5	-	13	2136	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V	CCDC108_ENST00000453220.1_Missense_Mutation_p.M685V|CCDC108_ENST00000410037.1_Missense_Mutation_p.M620V|CCDC108_ENST00000441968.1_Missense_Mutation_p.M685V|CCDC108_ENST00000409865.3_Missense_Mutation_p.M674V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	685						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACCACCATGATCTTGCCC	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2053-2055)Atg>Gtg		coiled-coil domain containing 108							70.0	64.0	66.0					2																	219892530		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892530T>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2053A>G	2.37:g.219892530T>C	ENSP00000340776:p.Met685Val					CCDC108_ENST00000410037.1_Missense_Mutation_p.M620V|CCDC108_ENST00000441968.1_Missense_Mutation_p.M685V|CCDC108_ENST00000409865.3_Missense_Mutation_p.M674V|CCDC108_ENST00000453220.1_Missense_Mutation_p.M685V	p.M685V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2136	-		Renal(207;0.0915)	685					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2053A>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	7.429	0.638309	0.14386	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.06142	3.67;3.67;3.67;3.34;3.36	5.18	5.18	0.71444	.	0.358775	0.20948	N	0.082804	T	0.03095	0.0091	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.10450	0.001;0.005;0.005	T	0.51710	-0.8671	10	0.23891	T	0.37	-11.0456	9.6549	0.39919	0.0:0.0772:0.0:0.9228	.	674;619;685	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	V	685;685;685;161;674;620;619	ENSP00000340776:M685V;ENSP00000413377:M685V;ENSP00000409117:M685V;ENSP00000386945:M674V;ENSP00000386258:M620V	ENSP00000340776:M685V	M	-	1	0	CCDC108	219600774	1.000000	0.71417	0.974000	0.42286	0.493000	0.33554	2.642000	0.46596	2.172000	0.68678	0.533000	0.62120	ATG		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		13	47	0	0	0	0.001368	0	13	47				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	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		7	68	0	0	0	0.001984	0	7	68				
PIK3CA	5290	broad.mit.edu	37	3	178952050	178952050	+	Silent	SNP	T	T	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr3:178952050T>G	ENST00000263967.3	+	21	3262	c.3105T>G	c.(3103-3105)gcT>gcG	p.A1035A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCAAGAGGCTTTGGAGTATT	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3103-3105)gcT>gcG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							96.0	85.0	88.0					3																	178952050		1888	4127	6015	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952050T>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3105T>G	3.37:g.178952050T>G		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1035A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3262	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1035		A -> V (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.3105T>G	CCDS43171.1																																																																																				0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	40	0	0	0	0.000248	0	4	40				
POLR3A	11128	broad.mit.edu	37	10	79781714	79781714	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:79781714C>T	ENST00000372371.3	-	7	1089	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	318					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTAGAGGGCACACTGCAGC	0.532																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(952-954)Gcc>Acc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							85.0	76.0	79.0					10																	79781714		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781714C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.952G>A	10.37:g.79781714C>T	ENSP00000361446:p.Ala318Thr						p.A318T	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		7	1089	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		318					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.952G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285269	0.95517	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68765	-0.35	5.72	5.72	0.89469	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	L	0.59967	1.855	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.76024	-0.3110	9	.	.	.	-26.7274	19.877	0.96880	0.0:1.0:0.0:0.0	.	318	O14802	RPC1_HUMAN	T	318	ENSP00000361446:A318T	.	A	-	1	0	POLR3A	79451720	1.000000	0.71417	0.987000	0.45799	0.693000	0.40251	7.479000	0.81095	2.696000	0.92011	0.650000	0.86243	GCC		0.532	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		7	53	0	0	0	0.001984	0	7	53				
ETFDH	2110	broad.mit.edu	37	4	159601637	159601637	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:159601637C>T	ENST00000511912.1	+	2	385	c.53C>T	c.(52-54)gCc>gTc	p.A18V	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	18					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGCTTTCATGCCTTAAAAATT	0.318																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(52-54)gCc>gTc		electron-transferring-flavoprotein dehydrogenase							81.0	76.0	77.0					4																	159601637		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159601637C>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.53C>T	4.37:g.159601637C>T	ENSP00000426638:p.Ala18Val					ETFDH_ENST00000307738.5_Intron	p.A18V	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	2	385	+	all_hematologic(180;0.24)	Renal(120;0.0458)	18					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.53C>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690017	0.48097	.	.	ENSG00000171503	ENST00000511912	D	0.97232	-4.3	5.63	4.79	0.61399	.	0.252357	0.46145	D	0.000309	D	0.92880	0.7735	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.88144	0.2846	10	0.30078	T	0.28	0.1293	6.5905	0.22644	0.1464:0.7039:0.0:0.1497	.	18	Q16134	ETFD_HUMAN	V	18	ENSP00000426638:A18V	ENSP00000426638:A18V	A	+	2	0	ETFDH	159821087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.201000	0.42734	1.525000	0.49052	0.591000	0.81541	GCC		0.318	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			5	33	0	0	0	0.000602	0	5	33				
RP1	6101	broad.mit.edu	37	8	55542773	55542773	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:55542773G>A	ENST00000220676.1	+	4	6479	c.6331G>A	c.(6331-6333)Gtt>Att	p.V2111I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2111					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V2111I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTGCCAAGTTGAGACCTC	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.V2111I(1)	lung(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6331-6333)Gtt>Att		retinitis pigmentosa 1 (autosomal dominant)							52.0	57.0	55.0					8																	55542773		2203	4293	6496	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542773G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6331G>A	8.37:g.55542773G>A	ENSP00000220676:p.Val2111Ile						p.V2111I	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6479	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2111						Missense_Mutation	SNP	ENST00000220676.1	37	c.6331G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173648	0.38413	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	5.43	2.51	0.30379	.	0.787203	0.10767	N	0.636511	T	0.21631	0.0521	L	0.34521	1.04	0.19300	N	0.999978	B	0.15141	0.012	B	0.15052	0.012	T	0.22591	-1.0212	10	0.45353	T	0.12	.	5.2408	0.15471	0.2424:0.2846:0.473:0.0	.	2111	P56715	RP1_HUMAN	I	2111	ENSP00000220676:V2111I	ENSP00000220676:V2111I	V	+	1	0	RP1	55705326	0.958000	0.32768	0.972000	0.41901	0.980000	0.70556	0.113000	0.15499	0.580000	0.29522	0.655000	0.94253	GTT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	56	0	0	0	0.001368	0	10	56				
CHI3L1	1116	broad.mit.edu	37	1	203152888	203152888	+	Missense_Mutation	SNP	G	G	A	rs199779694		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:203152888G>A	ENST00000255409.3	-	5	471	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	116					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AAAGTCCGGCGACTCTGGGTG	0.552																																						ENST00000255409.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(346-348)Cgc>Tgc		chitinase 3-like 1 (cartilage glycoprotein-39)							116.0	97.0	103.0					1																	203152888		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203152888G>A	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.346C>T	1.37:g.203152888G>A	ENSP00000255409:p.Arg116Cys						p.R116C	NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN			5	471	-			116					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.346C>T	CCDS1435.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.38	3.817203	0.70912	.	.	ENSG00000133048	ENST00000255409	T	0.10573	2.86	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.56097	D	0.000024	T	0.55465	0.1922	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75988	-0.3123	10	0.72032	D	0.01	-28.6302	17.3057	0.87194	0.0:0.0:1.0:0.0	.	116	P36222	CH3L1_HUMAN	C	116	ENSP00000255409:R116C	ENSP00000255409:R116C	R	-	1	0	CHI3L1	201419511	1.000000	0.71417	0.137000	0.22149	0.371000	0.29859	4.947000	0.63583	2.664000	0.90586	0.655000	0.94253	CGC		0.552	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		5	91	0	0	0	0.000602	0	5	91				
NCF4	4689	broad.mit.edu	37	22	37263492	37263492	+	Silent	SNP	C	C	T	rs373828331		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:37263492C>T	ENST00000248899.6	+	4	514	c.330C>T	c.(328-330)aaC>aaT	p.N110N	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Silent_p.N110N|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CTGCCCTCAACGCCTACATGA	0.577																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(328-330)aaC>aaT		neutrophil cytosolic factor 4, 40kDa		T	,	0,4406		0,0,2203	104.0	70.0	82.0		330,330	-4.9	0.8	22		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCF4	NM_000631.4,NM_013416.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	110/340,110/349	37263492	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37263492C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.330C>T	22.37:g.37263492C>T						CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000248899.6_Silent_p.N110N	p.N110N	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			4	514	+			110			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.330C>T	CCDS13934.1																																																																																				0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		4	38	0	0	0	0.000248	0	4	38				
OR2B11	127623	broad.mit.edu	37	1	247615283	247615283	+	Start_Codon_SNP	SNP	A	A	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:247615283A>T	ENST00000318749.6	-	1	25	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCACTTTTCATGTTGCGGCA	0.473																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(1-3)aTg>aAg		olfactory receptor, family 2, subfamily B, member 11							85.0	98.0	94.0					1																	247615283		2203	4300	6503	SO:0001582	initiator_codon_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615283A>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.2T>A	1.37:g.247615283A>T	ENSP00000325682:p.Met1Lys						p.M1K	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	25	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	1					B2RP03	Translation_Start_Site	SNP	ENST00000318749.6	37	c.2T>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526726	0.44969	.	.	ENSG00000177535	ENST00000318749	T	0.00001	9.88	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000020	T	0.00178	0.0005	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.90406	0.4406	9	0.87932	D	0	.	10.9328	0.47228	1.0:0.0:0.0:0.0	.	1	Q5JQS5	OR2BB_HUMAN	K	1	ENSP00000325682:M1K	ENSP00000325682:M1K	M	-	2	0	OR2B11	245681906	0.409000	0.25368	0.984000	0.44739	0.204000	0.24138	1.116000	0.31221	2.143000	0.66587	0.441000	0.28932	ATG		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	Missense_Mutation	8	45	0	0	0	0.004482	0	8	45				
TP53AIP1	63970	broad.mit.edu	37	11	128807545	128807545	+	Intron	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:128807545C>A	ENST00000531399.1	-	2	351				TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000602346.1_Missense_Mutation_p.G57C|TP53AIP1_ENST00000530777.1_Intron	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1						apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GGCAAAAGACCGTCTCGGTTT	0.607																																						ENST00000602346.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(169-171)Ggt>Tgt		tumor protein p53 regulated apoptosis inducing protein 1							75.0	69.0	71.0					11																	128807545		2201	4297	6498	SO:0001627	intron_variant	63970				apoptosis	mitochondrion		g.chr11:128807545C>A	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.141+27G>T	11.37:g.128807545C>A						TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron	p.G57C	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN			2	378	-			0					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Missense_Mutation	SNP	ENST00000531399.1	37	c.169G>T	CCDS8480.2	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178179	0.09443	.	.	ENSG00000120471	ENST00000263583	.	.	.	2.09	-4.02	0.04034	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.25641	-1.0126	7	0.87932	D	0	.	0.7576	0.01001	0.2579:0.3594:0.1395:0.2432	.	57	Q9HCN2-3	.	C	57	.	ENSP00000263583:G57C	G	-	1	0	TP53AIP1	128312755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.698000	0.05092	-1.301000	0.02338	-2.598000	0.00163	GGT		0.607	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1	NM_022112		13	88	1	0	0.000308642	0.003163	0.000812547	13	88				
SP4	6671	broad.mit.edu	37	7	21521732	21521732	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:21521732A>G	ENST00000222584.3	+	5	2316	c.2098A>G	c.(2098-2100)Acc>Gcc	p.T700A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	700					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACATAGAAGAACCCATACAGG	0.348																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2098-2100)Acc>Gcc		Sp4 transcription factor							112.0	109.0	110.0					7																	21521732		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521732A>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2098A>G	7.37:g.21521732A>G	ENSP00000222584:p.Thr700Ala						p.T700A	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2316	+			700					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2098A>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213547	0.79352	.	.	ENSG00000105866	ENST00000222584	T	0.41065	1.01	5.87	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053506	0.85682	D	0.000000	T	0.56543	0.1992	L	0.45744	1.44	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.58200	-0.7678	10	0.87932	D	0	.	12.2788	0.54753	0.8727:0.0:0.0:0.1273	.	700	Q02446	SP4_HUMAN	A	700	ENSP00000222584:T700A	ENSP00000222584:T700A	T	+	1	0	SP4	21488257	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	1.006000	0.39211	0.482000	0.46254	ACC		0.348	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	66	0	0	0	0.001984	0	6	66				
GJB4	127534	broad.mit.edu	37	1	35226969	35226969	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:35226969G>A	ENST00000339480.1	+	2	484	c.114G>A	c.(112-114)gtG>gtA	p.V38V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	38					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTACGTGGTGGCAGCGGAGG	0.582																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(112-114)gtG>gtA		gap junction protein, beta 4, 30.3kDa							239.0	161.0	188.0					1																	35226969		2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35226969G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.114G>A	1.37:g.35226969G>A							p.V38V	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	484	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	38					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.114G>A	CCDS383.1																																																																																				0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		6	47	0	0	0	0.003080	0	6	47				
EFCAB6	64800	broad.mit.edu	37	22	44127674	44127674	+	Missense_Mutation	SNP	T	T	C	rs150224112		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:44127674T>C	ENST00000262726.7	-	8	915	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGTGGATGTTGTAGTGTTT	0.323																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(661-663)aAc>aGc		EF-hand calcium binding domain 6		T	SER/ASN,SER/ASN	0,4404		0,0,2202	124.0	113.0	117.0		662,206	-1.8	0.1	22	dbSNP_134	117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	46,46	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	221/1502,69/1350	44127674	1,13001	2202	4299	6501	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127674T>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.662A>G	22.37:g.44127674T>C	ENSP00000262726:p.Asn221Ser					EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S|EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S	p.N221S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			8	915	-		Ovarian(80;0.0247)|all_neural(38;0.025)	221					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.662A>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	6.201	0.405272	0.11754	0.0	1.16E-4	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	D;T;T;T	0.82167	-1.58;1.06;1.2;1.06	5.22	-1.78	0.07957	EF-hand-like domain (1);	0.398491	0.23906	N	0.043388	T	0.75087	0.3802	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.25667	0.037;0.131;0.029;0.007	B;B;B;B	0.22601	0.04;0.033;0.015;0.005	T	0.62124	-0.6920	10	0.32370	T	0.25	-26.3129	10.3669	0.44030	0.0:0.5259:0.0:0.4741	.	115;115;221;221	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	S	69;221;115;115	ENSP00000379533:N69S;ENSP00000262726:N221S;ENSP00000351219:N115S;ENSP00000348391:N115S	ENSP00000262726:N221S	N	-	2	0	EFCAB6	42459007	0.637000	0.27216	0.051000	0.19133	0.637000	0.38172	0.299000	0.19138	-0.278000	0.09180	0.533000	0.62120	AAC		0.323	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		4	36	0	0	0	0.000602	0	4	36				
GUF1	60558	broad.mit.edu	37	4	44692859	44692859	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:44692859A>C	ENST00000281543.5	+	12	1655	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACTGGAAAAATAATGATGC	0.318																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1459-1461)aaA>aaC		GUF1 GTPase homolog (S. cerevisiae)							72.0	75.0	74.0					4																	44692859		2203	4297	6500	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44692859A>C		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1461A>C	4.37:g.44692859A>C	ENSP00000281543:p.Lys487Asn					GUF1_ENST00000506793.1_3'UTR	p.K487N	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			12	1655	+			487						Missense_Mutation	SNP	ENST00000281543.5	37	c.1461A>C	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098070	0.37048	.	.	ENSG00000151806	ENST00000281543	T	0.64085	-0.08	5.68	5.68	0.88126	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.041568	0.85682	D	0.000000	T	0.55065	0.1897	N	0.11106	0.095	0.58432	D	0.999999	P	0.45672	0.864	P	0.51079	0.658	T	0.61068	-0.7137	10	0.46703	T	0.11	-12.3665	15.0989	0.72256	1.0:0.0:0.0:0.0	.	487	Q8N442	GUF1_HUMAN	N	487	ENSP00000281543:K487N	ENSP00000281543:K487N	K	+	3	2	GUF1	44387616	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.887000	0.63156	2.162000	0.67917	0.459000	0.35465	AAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		8	87	0	0	0	0.006214	0	8	87				
ENKD1	84080	broad.mit.edu	37	16	67700164	67700164	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:67700164T>C	ENST00000243878.4	-	2	411	c.90A>G	c.(88-90)caA>caG	p.Q30Q	ENKD1_ENST00000602644.1_Silent_p.Q30Q|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	30						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CGAGGCGCCCTTGAGCTGTGG	0.731																																						ENST00000243878.4																			0											c.(88-90)caA>caG		enkurin domain containing 1							13.0	16.0	15.0					16																	67700164		2145	4229	6374	SO:0001819	synonymous_variant	84080							g.chr16:67700164T>C	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.90A>G	16.37:g.67700164T>C						ENKD1_ENST00000602644.1_Silent_p.Q30Q	p.Q30Q	NM_032140.1	NP_115516.1					2	411	-								Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.90A>G	CCDS10844.1																																																																																				0.731	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		7	30	0	0	0	0.001984	0	7	30				
GSDMC	56169	broad.mit.edu	37	8	130762274	130762274	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:130762274G>A	ENST00000276708.4	-	12	2056	c.1175C>T	c.(1174-1176)cCa>cTa	p.P392L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	392						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGGGTCCTTTGGGTTAAACCA	0.448																																						ENST00000276708.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1174-1176)cCa>cTa		gasdermin C							44.0	44.0	44.0					8																	130762274		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130762274G>A	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1175C>T	8.37:g.130762274G>A	ENSP00000276708:p.Pro392Leu						p.P392L	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			12	2056	-			392					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1175C>T	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	6.440	0.449342	0.12223	.	.	ENSG00000147697	ENST00000276708	T	0.17528	2.27	4.19	-4.53	0.03462	.	2.750870	0.01593	N	0.021683	T	0.03959	0.0111	N	0.00599	-1.345	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.21415	-1.0246	10	0.25751	T	0.34	.	1.1179	0.01718	0.3521:0.2609:0.2546:0.1324	.	392	Q9BYG8	GSDMC_HUMAN	L	392	ENSP00000276708:P392L	ENSP00000276708:P392L	P	-	2	0	GSDMC	130831456	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.345000	0.07770	-1.203000	0.02652	-0.499000	0.04595	CCA		0.448	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			4	17	0	0	0	0.000248	0	4	17				
IGKV1-8	28942	broad.mit.edu	37	2	89292205	89292205	+	RNA	SNP	C	C	T	rs375818501		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:89292205C>T	ENST00000495489.1	-	0	120									immunoglobulin kappa variable 1-8																		CTGGGTCATCCGGATGGCACA	0.463																																						ENST00000495489.1																			0															T		0,3878		0,0,1939	162.0	155.0	157.0			-3.8	0.0	2		157	1,8289		0,1,4144	no	intergenic				0,1,6083	TT,TC,CC		0.0121,0.0,0.0082			89292205	1,12167	1939	4145	6084			0							g.chr2:89292205C>T	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292205C>T														0	120	-									RNA	SNP	ENST00000495489.1	37																																																																																						0.463	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		23	226	0	0	0	0.003330	0	23	226				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	27	0	0	0	0.001168	0	6	27				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q88Q(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(262-264)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871088G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.264G>A	6.37:g.170871088G>A						TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q	p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	543	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	88			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.264G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	38	0	0	0	0.001168	0	4	38				
PTPRB	5787	broad.mit.edu	37	12	70925905	70925905	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:70925905G>A	ENST00000261266.5	-	30	5789	c.5760C>T	c.(5758-5760)atC>atT	p.I1920I	PTPRB_ENST00000550857.1_Silent_p.I1830I|PTPRB_ENST00000550358.1_Silent_p.I2050I|PTPRB_ENST00000538708.1_Silent_p.I1830I|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.I1830I|PTPRB_ENST00000334414.6_Silent_p.I2138I|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1920	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGCTGGAGGATTCGGTCCA	0.448																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(6412-6414)atC>atT		protein tyrosine phosphatase, receptor type, B							121.0	116.0	118.0					12																	70925905		1947	4141	6088	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70925905G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5760C>T	12.37:g.70925905G>A						RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Silent_p.I1830I|PTPRB_ENST00000261266.5_Silent_p.I1920I|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.I1830I|PTPRB_ENST00000550358.1_Silent_p.I2050I|PTPRB_ENST00000538708.1_Silent_p.I1830I|RP11-588H23.3_ENST00000548687.1_RNA	p.I2138I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		32	6458	-	Renal(347;0.236)		1920					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.6414C>T	CCDS44944.1																																																																																				0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	40	0	0	0	0.001168	0	6	40				
FZD8	8325	broad.mit.edu	37	10	35929635	35929635	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:35929635C>A	ENST00000374694.1	-	1	727	c.723G>T	c.(721-723)gtG>gtT	p.V241V	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	241					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCTGGACACGCTCACCA	0.736																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(721-723)gtG>gtT		frizzled family receptor 8							25.0	27.0	26.0					10																	35929635		2203	4296	6499	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929635C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.723G>T	10.37:g.35929635C>A							p.V241V	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	727	-			241						Silent	SNP	ENST00000374694.1	37	c.723G>T	CCDS7192.1																																																																																				0.736	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		5	40	1	0	3.59834e-05	0.001168	9.87628e-05	5	40				
MUC16	94025	broad.mit.edu	37	19	9087660	9087660	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9087660G>A	ENST00000397910.4	-	1	4358	c.4155C>T	c.(4153-4155)acC>acT	p.T1385T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1385	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGATGGTCCATGCTT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4153-4155)acC>acT		mucin 16, cell surface associated							162.0	163.0	163.0					19																	9087660		2186	4286	6472	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087660G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4155C>T	19.37:g.9087660G>A							p.T1385T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4358	-			1385			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4155C>T	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	128	0	0	0	0.006122	0	15	128				
OR6C2	341416	broad.mit.edu	37	12	55846662	55846662	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:55846662C>A	ENST00000322678.1	+	1	665	c.665C>A	c.(664-666)aCa>aAa	p.T222K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	222					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATAGTCAGAACAATTCTGAAG	0.403																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(664-666)aCa>aAa		olfactory receptor, family 6, subfamily C, member 2							164.0	153.0	157.0					12																	55846662		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846662C>A	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.665C>A	12.37:g.55846662C>A	ENSP00000323606:p.Thr222Lys					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.T222K	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	665	+			222						Missense_Mutation	SNP	ENST00000322678.1	37	c.665C>A	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428783	0.83667	.	.	ENSG00000179695	ENST00000322678	T	0.00152	8.66	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.196812	0.36268	N	0.002681	T	0.00552	0.0018	M	0.90483	3.12	0.31744	N	0.635462	D	0.55172	0.97	P	0.59056	0.851	T	0.40098	-0.9581	10	0.87932	D	0	.	17.6249	0.88091	0.0:1.0:0.0:0.0	.	222	Q9NZP2	OR6C2_HUMAN	K	222	ENSP00000323606:T222K	ENSP00000323606:T222K	T	+	2	0	OR6C2	54132929	0.000000	0.05858	0.533000	0.28001	0.262000	0.26303	0.479000	0.22228	2.741000	0.93983	0.609000	0.83330	ACA		0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		14	145	1	0	1.5842e-08	0.001855	4.44265e-08	14	145				
ZNF394	84124	broad.mit.edu	37	7	99096409	99096409	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:99096409G>A	ENST00000337673.6	-	2	716	c.513C>T	c.(511-513)cgC>cgT	p.R171R	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	171	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGGTCCAGGCGCTCCCACT	0.582																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(511-513)cgC>cgT		zinc finger protein 394							116.0	90.0	98.0					7																	99096409		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99096409G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.513C>T	7.37:g.99096409G>A						ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron	p.R171R	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			2	716	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		171			KRAB.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.513C>T	CCDS5666.1																																																																																				0.582	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	56	0	0	0	0.001168	0	5	56				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	47	0	0	0	0.001168	0	3	47				
APBB3	10307	broad.mit.edu	37	5	139940031	139940031	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr5:139940031A>C	ENST00000357560.4	-	12	1534	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	APBB3_ENST00000354402.5_Missense_Mutation_p.F371C|APBB3_ENST00000412920.3_Missense_Mutation_p.F362C|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.F369C|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.I325M|APBB3_ENST00000508496.2_Missense_Mutation_p.F141C|APBB3_ENST00000511201.2_Missense_Mutation_p.I323M	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	364	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACCAATAAATGTCACAAG	0.632																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1090-1092)tTt>tGt		amyloid beta (A4) precursor protein-binding, family B, member 3							55.0	42.0	46.0					5																	139940031		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139940031A>C	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1091T>G	5.37:g.139940031A>C	ENSP00000350171:p.Phe364Cys					APBB3_ENST00000412920.3_Missense_Mutation_p.F362C|APBB3_ENST00000354402.5_Missense_Mutation_p.F371C|APBB3_ENST00000511201.2_Missense_Mutation_p.I323M|APBB3_ENST00000358580.5_Missense_Mutation_p.I325M|APBB3_ENST00000356738.2_Missense_Mutation_p.F369C|APBB3_ENST00000508496.2_Missense_Mutation_p.F141C	p.F364C	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1534	-			364			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1091T>G	CCDS4229.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.64|14.64	2.594715|2.594715	0.46318|0.46318	.|.	.|.	ENSG00000113108|ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920|ENST00000358580;ENST00000511201	T;T;T;T;T|T;T	0.29397|0.25250	1.57;1.57;1.57;1.57;1.57|1.81;1.81	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.051045|.	0.85682|.	D|.	0.000000|.	T|T	0.31544|0.31544	0.0800|0.0800	M|M	0.73430|0.73430	2.235|2.235	0.35260|0.35260	D|D	0.779504|0.779504	D;D|B	0.89917|0.18461	1.0;1.0|0.028	D;D|B	0.97110|0.13407	1.0;1.0|0.009	T|T	0.34601|0.34601	-0.9822|-0.9822	9|8	.|.	.|.	.|.	-11.6344|-11.6344	15.2065|15.2065	0.73183|0.73183	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	362;369|323	O95704-2;O95704-3|D6RBA1	.;.|.	C|M	369;371;364;141;362|325;323	ENSP00000349177:F369C;ENSP00000346378:F371C;ENSP00000350171:F364C;ENSP00000444013:F141C;ENSP00000402591:F362C|ENSP00000351389:I325M;ENSP00000424317:I323M	.|.	F|I	-|-	2|3	0|3	APBB3|APBB3	139920215|139920215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.191000|9.191000	0.94940|0.94940	1.997000|1.997000	0.58415|0.58415	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.632	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		4	41	0	0	0	0.000248	0	4	41				
PDGFB	5155	broad.mit.edu	37	22	39626111	39626111	+	Silent	SNP	C	C	T	rs149693918		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:39626111C>T	ENST00000331163.6	-	5	1366	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PDGFB_ENST00000381551.4_Silent_p.P178P	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	193					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGGAACCCCCCGGGCTTCGGG	0.622			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(577-579)ccG>ccA		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						54.0	58.0	57.0					22																	39626111		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39626111C>T		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.579G>A	22.37:g.39626111C>T						PDGFB_ENST00000381551.4_Silent_p.P178P	p.P193P	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			5	1366	-	Melanoma(58;0.04)		193					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.579G>A	CCDS13987.1																																																																																				0.622	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		11	109	0	0	0	0.000978	0	11	109				
KIF21A	55605	broad.mit.edu	37	12	39696874	39696874	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:39696874G>A	ENST00000361418.5	-	36	4639	c.4624C>T	c.(4624-4626)Cat>Tat	p.H1542Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.H1489Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1529Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.H1543Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1505Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1542					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCATCATAATGAGGGGGTTCA	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(4627-4629)Cat>Tat		kinesin family member 21A							110.0	103.0	106.0					12																	39696874		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39696874G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4624C>T	12.37:g.39696874G>A	ENSP00000354878:p.His1542Tyr					KIF21A_ENST00000541463.2_Missense_Mutation_p.H1489Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.H1542Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1529Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1505Y	p.H1543Y			Q7Z4S6	KI21A_HUMAN			35	5046	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1542					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4627C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764037	0.89932	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	D;D;D;T;D;T	0.87029	-2.2;-2.2;-2.2;1.32;-2.2;-0.44	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.53938	D	0.000050	D	0.95589	0.8566	H	0.94542	3.55	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.996;0.996;0.999;0.996;0.999;1.0	D;D;D;D;D;D	0.91635	0.986;0.986;0.968;0.986;0.997;0.999	D	0.96772	0.9569	10	0.87932	D	0	.	18.7182	0.91684	0.0:0.0:1.0:0.0	.	1505;1489;1542;1529;1495;529	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	Y	1529;1543;1495;529;523;1505;1542;1489	ENSP00000354851:H1529Y;ENSP00000379029:H1543Y;ENSP00000448792:H523Y;ENSP00000445606:H1505Y;ENSP00000354878:H1542Y;ENSP00000438075:H1489Y	ENSP00000344501:H1495Y	H	-	1	0	KIF21A	37983141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.429000	0.82318	0.591000	0.81541	CAT		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	85	0	0	0	0.008291	0	10	85				
AMZ1	155185	broad.mit.edu	37	7	2748832	2748832	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:2748832G>A	ENST00000312371.4	+	5	1093	c.725G>A	c.(724-726)gGc>gAc	p.G242D	AMZ1_ENST00000407112.1_Intron|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	242							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CAGGACAGGGGCTGGGCCCTG	0.687																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(724-726)gGc>gAc		archaelysin family metallopeptidase 1							15.0	19.0	17.0					7																	2748832		2198	4289	6487	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2748832G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.725G>A	7.37:g.2748832G>A	ENSP00000308149:p.Gly242Asp					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron	p.G242D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	5	1093	+		Ovarian(82;0.0779)	242					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.725G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705264	0.30232	.	.	ENSG00000174945	ENST00000312371	T	0.22336	1.96	4.55	2.28	0.28536	.	0.293110	0.31697	N	0.007212	T	0.09069	0.0224	N	0.19112	0.55	0.19300	N	0.99998	B	0.12013	0.005	B	0.09377	0.004	T	0.32402	-0.9908	10	0.08179	T	0.78	-38.549	4.0908	0.09968	0.4462:0.0:0.5538:0.0	.	242	Q400G9	AMZ1_HUMAN	D	242	ENSP00000308149:G242D	ENSP00000308149:G242D	G	+	2	0	AMZ1	2715358	0.077000	0.21312	0.037000	0.18230	0.965000	0.64279	1.549000	0.36212	1.038000	0.40049	0.462000	0.41574	GGC		0.687	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		5	35	0	0	0	0.001168	0	5	35				
ZNF426	79088	broad.mit.edu	37	19	9640096	9640096	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9640096T>C	ENST00000535489.1	-	6	961	c.625A>G	c.(625-627)Aca>Gca	p.T209A	ZNF426_ENST00000593003.1_Missense_Mutation_p.T171A|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.T209A			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	209					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(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATATTTGGTGTCAGGCTGAAG	0.373																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(511-513)Aca>Gca		zinc finger protein 426							162.0	157.0	159.0					19																	9640096		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9640096T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.625A>G	19.37:g.9640096T>C	ENSP00000439017:p.Thr209Ala					ZNF426_ENST00000253115.2_Missense_Mutation_p.T209A|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000535489.1_Missense_Mutation_p.T209A	p.T171A			Q9BUY5	ZN426_HUMAN			6	988	-			209					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.511A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175493	0.21704	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.05447	3.44;3.44	1.25	1.25	0.21368	.	.	.	.	.	T	0.03564	0.0102	N	0.13299	0.325	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.26614	0.071;0.071	T	0.48019	-0.9071	9	0.18710	T	0.47	.	4.6587	0.12632	0.0:0.0:0.0:1.0	.	196;209	Q59EH4;Q9BUY5	.;ZN426_HUMAN	A	196;209;209	ENSP00000253115:T209A;ENSP00000439017:T209A	ENSP00000253115:T209A	T	-	1	0	ZNF426	9501096	0.000000	0.05858	0.009000	0.14445	0.799000	0.45148	-0.238000	0.08977	0.814000	0.34374	0.260000	0.18958	ACA		0.373	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		4	121	0	0	0	0.000248	0	4	121				
ZNF208	7757	broad.mit.edu	37	19	22156520	22156520	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:22156520T>C	ENST00000397126.4	-	4	1464	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCCATAAGGTTTGAGGACCA	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1315-1317)aAc>aGc		zinc finger protein 208							82.0	89.0	87.0					19																	22156520		2109	4252	6361	SO:0001583	missense	7757							g.chr19:22156520T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1316A>G	19.37:g.22156520T>C	ENSP00000380315:p.Asn439Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.N439S	NM_007153.3	NP_009084.2					4	1464	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1316A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.337772	0.00224	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19938	2.11	2.83	-3.92	0.04155	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36212	-0.9757	8	0.02654	T	1	.	5.4678	0.16652	0.0:0.2078:0.3899:0.4022	.	439	O43345	ZN208_HUMAN	S	439	ENSP00000380315:N439S	ENSP00000380315:N439S	N	-	2	0	ZNF208	21948360	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.351000	0.00248	-1.201000	0.02659	-2.303000	0.00259	AAC		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	67	0	0	0	0.001984	0	7	67				
MYH4	4622	broad.mit.edu	37	17	10366430	10366430	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:10366430G>A	ENST00000255381.2	-	10	991	c.881C>T	c.(880-882)tCc>tTc	p.S294F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	294	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCTTATTGGACAGGATTTG	0.368																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(880-882)tCc>tTc		myosin, heavy chain 4, skeletal muscle							98.0	97.0	97.0					17																	10366430		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366430G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.881C>T	17.37:g.10366430G>A	ENSP00000255381:p.Ser294Phe					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.S294F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			10	991	-			294			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.881C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767909	0.90020	.	.	ENSG00000141048	ENST00000255381	D	0.88277	-2.36	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.37304	U	0.002154	D	0.96408	0.8828	H	0.95780	3.72	0.80722	D	1	D	0.61080	0.989	D	0.74023	0.982	D	0.97265	0.9907	10	0.87932	D	0	.	19.4676	0.94950	0.0:0.0:1.0:0.0	.	294	Q9Y623	MYH4_HUMAN	F	294	ENSP00000255381:S294F	ENSP00000255381:S294F	S	-	2	0	MYH4	10307155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.806000	0.99153	2.666000	0.90696	0.650000	0.86243	TCC		0.368	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	58	0	0	0	0.003080	0	6	58				
NRXN1	9378	broad.mit.edu	37	2	50850692	50850692	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:50850692T>C	ENST00000406316.2	-	6	2370	c.894A>G	c.(892-894)caA>caG	p.Q298Q	NRXN1_ENST00000406859.3_Silent_p.Q298Q|NRXN1_ENST00000405472.3_Silent_p.Q298Q|NRXN1_ENST00000401669.2_Silent_p.Q298Q|NRXN1_ENST00000402717.3_Silent_p.Q298Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.Q331Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	298	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATGGGGTTTTGAGACAAGT	0.378																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(991-993)caA>caG		neurexin 1							135.0	124.0	127.0					2																	50850692		1870	4094	5964	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50850692T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.894A>G	2.37:g.50850692T>C						NRXN1_ENST00000406859.3_Silent_p.Q298Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.Q298Q|NRXN1_ENST00000405472.3_Silent_p.Q298Q|NRXN1_ENST00000401669.2_Silent_p.Q298Q|NRXN1_ENST00000402717.3_Silent_p.Q298Q	p.Q331Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		7	2332	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	298			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.993A>G	CCDS54360.1																																																																																				0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	105	0	0	0	0.003080	0	7	105				
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:100273819C>T	ENST00000510055.1	-	0	68				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCTTACTTTTCCTGCTGTGCT	0.313																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						129.0	125.0	126.0					4																	100273819		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100273819C>T	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273819C>T						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	68	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.313	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		12	86	0	0	0	0.001368	0	12	86				
SPRED2	200734	broad.mit.edu	37	2	65540895	65540895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:65540895C>T	ENST00000356388.4	-	6	1186	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	SPRED2_ENST00000443619.2_Missense_Mutation_p.V330M|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CAAGTTCTCACGGAGTCGGGC	0.637																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(997-999)Gtg>Atg		sprouty-related, EVH1 domain containing 2							87.0	84.0	85.0					2																	65540895		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540895C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.997G>A	2.37:g.65540895C>T	ENSP00000348753:p.Val333Met					SPRED2_ENST00000443619.2_Missense_Mutation_p.V330M	p.V333M	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1186	-			333			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.997G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865126	0.71949	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.75	4.69	0.59074	.	0.253441	0.40302	N	0.001129	T	0.68384	0.2995	L	0.43152	1.355	0.44395	D	0.997309	P;D	0.63046	0.683;0.992	B;P	0.59546	0.311;0.859	T	0.67891	-0.5553	10	0.46703	T	0.11	-19.561	14.6057	0.68478	0.0:0.8783:0.0:0.1217	.	330;333	E9PEP0;Q7Z698	.;SPRE2_HUMAN	M	333;330;348;215	ENSP00000348753:V333M;ENSP00000393697:V330M;ENSP00000390595:V348M;ENSP00000407627:V215M	ENSP00000348753:V333M	V	-	1	0	SPRED2	65394399	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.142000	0.42177	2.716000	0.92895	0.655000	0.94253	GTG		0.637	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			6	157	0	0	0	0.001168	0	6	157				
MYO9B	4650	broad.mit.edu	37	19	17265124	17265124	+	Splice_Site	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:17265124G>A	ENST00000594824.1	+	6	1245		c.e6-1		CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|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)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTGTTTTCCAGCATAACTTGA	0.587																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e6-1		myosin IXB							66.0	69.0	68.0					19																	17265124		1965	4162	6127	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17265124G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1099-1G>A	19.37:g.17265124G>A						CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|CTD-3032J10.2_ENST00000599360.1_RNA		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			6	1250	+								O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	37			.	.	.	.	.	.	.	.	.	.	G	19.00	3.742302	0.69418	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4633	0.87625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17126124	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	9.044000	0.93805	2.357000	0.79964	0.563000	0.77884	.		0.587	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	3	57	0	0	0	0.004672	0	3	57				
PPFIBP2	8495	broad.mit.edu	37	11	7670431	7670431	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:7670431A>G	ENST00000299492.4	+	20	2351	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R512G|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R497G|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R543G	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	655	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCATGAATCTAGAGTTGACAG	0.428																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1963-1965)Aga>Gga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							121.0	111.0	114.0					11																	7670431		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670431A>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1963A>G	11.37:g.7670431A>G	ENSP00000299492:p.Arg655Gly					PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R543G|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R512G|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R497G	p.R655G	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	20	2351	+			655			SAM 2.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1963A>G	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581399	0.65992	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.3	5.3	0.74995	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	N	0.16266	0.395	0.45272	D	0.998273	D;P;D;P;D;D	0.89917	1.0;0.856;1.0;0.925;1.0;0.996	D;P;D;P;D;D	0.97110	0.997;0.577;1.0;0.68;0.999;0.971	T	0.55477	-0.8135	10	0.46703	T	0.11	-17.4172	13.4818	0.61340	1.0:0.0:0.0:0.0	.	543;543;578;497;512;655	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	G	655;497;578;543;512	ENSP00000299492:R655G;ENSP00000436498:R497G;ENSP00000435469:R543G;ENSP00000437321:R512G	ENSP00000299492:R655G	R	+	1	2	PPFIBP2	7627007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.508000	0.45450	2.125000	0.65367	0.460000	0.39030	AGA		0.428	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		4	58	0	0	0	0.000248	0	4	58				
CEP83	51134	broad.mit.edu	37	12	94763798	94763798	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:94763798T>C	ENST00000397809.5	-	9	1497	c.948A>G	c.(946-948)aaA>aaG	p.K316K	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Silent_p.K316K|CCDC41_ENST00000397807.2_Silent_p.K283K|CCDC41_ENST00000339839.5_Silent_p.K316K	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		308					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTGAATGTTTAAGTTCTT	0.328																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(946-948)aaA>aaG		coiled-coil domain containing 41							235.0	213.0	220.0					12																	94763798		1846	4109	5955	SO:0001819	synonymous_variant	51134							g.chr12:94763798T>C																												ENST00000397809.5:c.948A>G	12.37:g.94763798T>C						CCDC41_ENST00000547575.1_Silent_p.K316K|CCDC41_ENST00000397807.2_Silent_p.K283K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Silent_p.K316K	p.K316K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			9	1497	-			308					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.948A>G	CCDS41820.1																																																																																				0.328	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	153	0	0	0	0.001168	0	5	153				
CTC-338M12.9	0	broad.mit.edu	37	5	180708698	180708699	+	lincRNA	INS	-	-	G	rs1815381|rs57699261		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr5:180708698_180708699insG	ENST00000412295.2	+	0	238																											gggcggtaggcgggggctggag	0.723																																						ENST00000412295.2																			0																																																			0							g.chr5:180708698_180708699insG																													5.37:g.180708703_180708703dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.723	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			3	6						3	6	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32544153	32544154	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:32544153_32544154delAG	ENST00000360538.2	-	3	485_486	c.369_370delCT	c.(367-372)ttctgtfs	p.FC123fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.FC58fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	123	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAGCGAAAACAGAACTTATGTA	0.401																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(367-372)ttgtfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544153_32544154delAG	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.369_370delCT	9.37:g.32544153_32544154delAG	ENSP00000353735:p.Phe123fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.FC58fs	p.FC123fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	485_486	-			123			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.369_370delCT	CCDS6527.1																																																																																				0.401	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		20	115						20	115	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		5	4						5	4	---	---	---	---
