#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
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	rs572494015		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr8:144808629C>T	ENST00000388913.3	-	5	3127	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1001					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													c|||	1	0.000199681	0.0008	0.0	5008	,	,		13490	0.0		0.0	False		,,,				2504	0.0					ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3001-3003)cGt>cAt		family with sequence similarity 83, member H							9.0	13.0	12.0					8																	144808629		1979	4119	6098	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808629C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3002G>A	8.37:g.144808629C>T	ENSP00000373565:p.Arg1001His						p.R1001H	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3127	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1001					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3002G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	11.91	1.780065	0.31502	.	.	ENSG00000180921	ENST00000388913	T	0.16597	2.33	5.01	1.1	0.20463	.	3.864760	0.00897	N	0.002301	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	1	D	0.53151	0.958	B	0.38106	0.265	T	0.40117	-0.9580	10	0.62326	D	0.03	.	9.4019	0.38437	0.0:0.6975:0.0:0.3025	.	1001	Q6ZRV2	FA83H_HUMAN	H	1001	ENSP00000373565:R1001H	ENSP00000373565:R1001H	R	-	2	0	FAM83H	144880617	0.000000	0.05858	0.801000	0.32222	0.017000	0.09413	0.699000	0.25586	0.519000	0.28406	-0.273000	0.10243	CGT		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		6	8	0	0	0	0.248553	0	6	8				
UGT2A3	79799	broad.mit.edu	37	4	69795535	69795535	+	Missense_Mutation	SNP	T	T	C	rs185390881		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr4:69795535T>C	ENST00000251566.4	-	6	1610	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGATCTATTCCCTCTTTTC	0.328													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18724	0.0		0.0	False		,,,				2504	0.0					ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1579-1581)gAa>gGa		UDP glucuronosyltransferase 2 family, polypeptide A3							32.0	35.0	34.0					4																	69795535		2202	4288	6490	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795535T>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1580A>G	4.37:g.69795535T>C	ENSP00000251566:p.Glu527Gly					UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238G	p.E527G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1610	-			527					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1580A>G	CCDS3525.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	13.19	2.162589	0.38217	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;D	0.81739	0.13;-1.53	1.36	1.36	0.22044	.	0.872875	0.09679	N	0.769964	T	0.79482	0.4453	L	0.60455	1.87	0.20307	N	0.999918	D	0.53619	0.961	P	0.49637	0.617	T	0.68066	-0.5507	10	0.87932	D	0	.	4.854	0.13550	0.0:0.0:0.0:1.0	.	527	Q6UWM9	UD2A3_HUMAN	G	527;238	ENSP00000251566:E527G;ENSP00000440115:E238G	ENSP00000251566:E527G	E	-	2	0	UGT2A3	69830124	0.318000	0.24598	0.041000	0.18516	0.252000	0.25951	2.851000	0.48302	0.900000	0.36469	0.260000	0.18958	GAA		0.328	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		35	67	0	0	0	0.779181	0	35	67				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	4	75	0	0	0	0.150653	0	4	75				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	89	1	0	5.18039e-06	0.278610	5.88044e-06	5	89				
SFMBT2	57713	broad.mit.edu	37	10	7214050	7214050	+	Missense_Mutation	SNP	C	C	T	rs199600207	byFrequency	TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:7214050C>T	ENST00000361972.4	-	19	2312	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R741Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	741					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTCATCCCGGAGCTCGGA	0.692													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13513	0.001		0.0	False		,,,				2504	0.0					ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2221-2223)cGg>cAg		Scm-like with four mbt domains 2							25.0	29.0	28.0					10																	7214050		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214050C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2222G>A	10.37:g.7214050C>T	ENSP00000355109:p.Arg741Gln					SFMBT2_ENST00000397167.1_Missense_Mutation_p.R741Q	p.R741Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			19	2312	-			741					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2222G>A	CCDS31138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.72	2.022519	0.35701	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.13657	2.57;2.57	5.25	4.34	0.51931	.	0.174649	0.51477	N	0.000091	T	0.08447	0.0210	L	0.38953	1.18	0.80722	D	1	B	0.33379	0.41	B	0.17098	0.017	T	0.13442	-1.0509	10	0.09084	T	0.74	.	11.3533	0.49600	0.0:0.8511:0.0:0.1489	.	741	Q5VUG0	SMBT2_HUMAN	Q	741	ENSP00000355109:R741Q;ENSP00000380353:R741Q	ENSP00000355109:R741Q	R	-	2	0	SFMBT2	7254056	0.995000	0.38212	0.982000	0.44146	0.951000	0.60555	3.275000	0.51639	1.176000	0.42840	0.561000	0.74099	CGG		0.692	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		9	16	0	0	0	0.387290	0	9	16				
KIF20B	9585	broad.mit.edu	37	10	91477448	91477448	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:91477448A>G	ENST00000371728.3	+	11	1305	c.1240A>G	c.(1240-1242)Att>Gtt	p.I414V	KIF20B_ENST00000394289.2_Missense_Mutation_p.I414V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I414V|KIF20B_ENST00000416354.1_Missense_Mutation_p.I414V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	414	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGAAAGTGTATTAACGTCTT	0.313																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1240-1242)Att>Gtt		kinesin family member 20B							114.0	126.0	122.0					10																	91477448		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91477448A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1240A>G	10.37:g.91477448A>G	ENSP00000360793:p.Ile414Val					KIF20B_ENST00000371728.3_Missense_Mutation_p.I414V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I414V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I414V	p.I414V			Q96Q89	KI20B_HUMAN			11	1312	+			414					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1240A>G		.	.	.	.	.	.	.	.	.	.	A	19.93	3.918816	0.73098	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.19	5.19	0.71726	Kinesin, motor domain (3);	0.000000	0.51477	D	0.000084	D	0.88562	0.6470	M	0.63169	1.94	0.58432	D	0.999998	P;P	0.43857	0.819;0.694	P;P	0.57720	0.826;0.565	D	0.89608	0.3839	10	0.72032	D	0.01	-13.9373	15.3414	0.74300	1.0:0.0:0.0:0.0	.	414;414	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	414	ENSP00000260753:I414V;ENSP00000411545:I414V;ENSP00000377830:I414V;ENSP00000360793:I414V	ENSP00000260753:I414V	I	+	1	0	KIF20B	91467428	1.000000	0.71417	0.975000	0.42487	0.647000	0.38526	4.454000	0.60068	2.089000	0.63090	0.533000	0.62120	ATT		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		6	194	0	0	0	0.217242	0	6	194				
SLC7A3	84889	broad.mit.edu	37	X	70148834	70148834	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrX:70148834C>A	ENST00000374299.3	-	3	533	c.389G>T	c.(388-390)cGg>cTg	p.R130L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R130L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	130					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCAGGCCCGGGCCACACT	0.547																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(388-390)cGg>cTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						43.0	40.0	41.0					X																	70148834		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148834C>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.389G>T	X.37:g.70148834C>A	ENSP00000363417:p.Arg130Leu					SLC7A3_ENST00000298085.4_Missense_Mutation_p.R130L	p.R130L			Q8WY07	CTR3_HUMAN			3	533	-	Renal(35;0.156)		130					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.389G>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676107	0.67928	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88896	-2.44;-2.44	5.16	4.3	0.51218	Amino acid permease domain (1);	0.057129	0.64402	D	0.000001	D	0.91466	0.7306	M	0.75085	2.285	0.54753	D	0.999982	P	0.36249	0.545	P	0.48598	0.583	D	0.91449	0.5180	10	0.87932	D	0	.	11.5491	0.50711	0.0:0.9131:0.0:0.0869	.	130	Q8WY07	CTR3_HUMAN	L	130	ENSP00000363417:R130L;ENSP00000298085:R130L	ENSP00000298085:R130L	R	-	2	0	SLC7A3	70065559	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.750000	0.68712	1.161000	0.42604	0.436000	0.28706	CGG		0.547	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		3	46	1	0	0.00909568	0.150653	0.00979535	3	46				
HPR	3250	broad.mit.edu	37	16	72110680	72110680	+	Silent	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr16:72110680C>T	ENST00000540303.2	+	5	779	c.747C>T	c.(745-747)taC>taT	p.Y249Y	HPR_ENST00000228226.8_Silent_p.Y286Y|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.Y249Y	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	249	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGACCAATACGATTGCATAA	0.507																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(745-747)taC>taT		haptoglobin-related protein							150.0	108.0	122.0					16																	72110680		2066	4192	6258	SO:0001819	synonymous_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110680C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.747C>T	16.37:g.72110680C>T						HPR_ENST00000356967.5_Silent_p.Y249Y|HPR_ENST00000228226.8_Silent_p.Y286Y|HPR_ENST00000561690.1_Intron	p.Y249Y	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	779	+		Ovarian(137;0.125)	249			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	c.747C>T	CCDS42193.1																																																																																				0.507	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		35	67	0	0	0	0.769981	0	35	67				
TSHR	7253	broad.mit.edu	37	14	81610525	81610525	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:81610525G>T	ENST00000541158.2	+	11	2445	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	TSHR_ENST00000298171.2_Missense_Mutation_p.G708V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	708					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATACCGGGGGCAGAGGGTT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(2122-2124)gGg>gTg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						114.0	109.0	111.0					14																	81610525		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610525G>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2123G>T	14.37:g.81610525G>T	ENSP00000441235:p.Gly708Val					RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.G708V	p.G708V			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2445	+			708					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.2123G>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215999	0.58452	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.76186	-1.0;-1.0	5.4	3.56	0.40772	.	0.145674	0.64402	D	0.000007	T	0.79822	0.4512	L	0.52905	1.665	0.80722	D	1	D	0.54397	0.966	P	0.62740	0.906	T	0.76793	-0.2828	10	0.38643	T	0.18	.	11.1847	0.48648	0.0695:0.1279:0.8027:0.0	.	708	F5GYU5	.	V	708;355;708	ENSP00000441235:G708V;ENSP00000298171:G708V	ENSP00000298171:G708V	G	+	2	0	TSHR	80680278	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	4.933000	0.63484	0.647000	0.30713	0.561000	0.74099	GGG		0.498	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		58	113	1	0	1.20869e-33	0.870114	1.45043e-33	58	113				
OR14A16	284532	broad.mit.edu	37	1	247978653	247978653	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:247978653G>T	ENST00000357627.1	-	1	378	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGCAGAGGGTGACATATA	0.512																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(379-381)Cct>Act		olfactory receptor, family 14, subfamily A, member 16							121.0	113.0	116.0					1																	247978653		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978653G>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.379C>A	1.37:g.247978653G>T	ENSP00000350248:p.Pro127Thr						p.P127T	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	378	-			127					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.379C>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810414	0.50421	.	.	ENSG00000196772	ENST00000357627	T	0.01887	4.58	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	U	0.000384	T	0.26376	0.0644	H	0.99535	4.615	0.37736	D	0.92546	D	0.76494	0.999	D	0.79784	0.993	T	0.62421	-0.6858	10	0.87932	D	0	.	15.6732	0.77295	0.0:0.0:1.0:0.0	.	127	Q8NHC5	O14AG_HUMAN	T	127	ENSP00000350248:P127T	ENSP00000350248:P127T	P	-	1	0	OR14A16	246045276	1.000000	0.71417	0.848000	0.33437	0.169000	0.22640	6.284000	0.72652	2.100000	0.63781	0.590000	0.80494	CCT		0.512	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		55	126	1	0	1.14385e-22	0.870114	1.3345e-22	55	126				
ZNF12	7559	broad.mit.edu	37	7	6737039	6737039	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:6737039T>A	ENST00000405858.1	-	4	710	c.169A>T	c.(169-171)Atc>Ttc	p.I57F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.I57F|ZNF12_ENST00000404360.1_Missense_Mutation_p.I21F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACTTGCTGATAACATCCGGT	0.463																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(169-171)Atc>Ttc		zinc finger protein 12							83.0	83.0	83.0					7																	6737039		2066	4231	6297	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6737039T>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.169A>T	7.37:g.6737039T>A	ENSP00000385939:p.Ile57Phe					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.I57F|ZNF12_ENST00000404360.1_Missense_Mutation_p.I21F	p.I57F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	4	710	-		Ovarian(82;0.0776)	57			KRAB.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.169A>T	CCDS47538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.7|20.7	4.041606|4.041606	0.75732|0.75732	.|.	.|.	ENSG00000164631|ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442|ENST00000394917	T;T;T|T	0.51071|0.01998	5.54;0.72;0.72|4.51	4.13|4.13	4.13|4.13	0.48395|0.48395	Krueppel-associated box (3);|.	0.000000|.	0.40640|.	N|.	0.001051|.	T|T	0.08758|0.08758	0.0217|0.0217	M|M	0.85945|0.85945	2.785|2.785	0.40029|0.40029	D|D	0.975504|0.975504	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.00389|0.00389	-1.1770|-1.1770	10|6	0.66056|.	D|.	0.02|.	.|.	6.3792|6.3792	0.21525|0.21525	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	57;57|.	P17014;P17014-5|.	ZNF12_HUMAN;.|.	F|F	21;57;57;115;21|55	ENSP00000384405:I21F;ENSP00000385939:I57F;ENSP00000344745:I57F|ENSP00000378375:L55F	ENSP00000331039:I21F|.	I|L	-|-	1|3	0|2	ZNF12|ZNF12	6703564|6703564	0.995000|0.995000	0.38212|0.38212	0.991000|0.991000	0.47740|0.47740	0.984000|0.984000	0.73092|0.73092	3.016000|3.016000	0.49607|0.49607	2.105000|2.105000	0.64084|0.64084	0.482000|0.482000	0.46254|0.46254	ATC|TTA		0.463	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		10	14	0	0	0	0.435327	0	10	14				
WDR75	84128	broad.mit.edu	37	2	190313123	190313123	+	Silent	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:190313123T>C	ENST00000314761.4	+	2	165	c.105T>C	c.(103-105)tcT>tcC	p.S35S		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	35						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGTGTCTCTGGAGACTTTG	0.368																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(103-105)tcT>tcC		WD repeat domain 75							75.0	72.0	73.0					2																	190313123		2203	4300	6503	SO:0001819	synonymous_variant	84128					nucleolus		g.chr2:190313123T>C	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.105T>C	2.37:g.190313123T>C							p.S35S	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		2	165	+			35					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	c.105T>C	CCDS2298.1																																																																																				0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		33	55	0	0	0	0.769981	0	33	55				
COL18A1	80781	broad.mit.edu	37	21	46925852	46925852	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:46925852G>A	ENST00000359759.4	+	36	4454	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1063H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R1243H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1478	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCTACGTCCGCGTGCAGAAC	0.667																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4432-4434)cGc>cAc		collagen, type XVIII, alpha 1							96.0	113.0	107.0					21																	46925852		2097	4193	6290	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925852G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4433G>A	21.37:g.46925852G>A	ENSP00000352798:p.Arg1478His					COL18A1_ENST00000355480.5_Missense_Mutation_p.R1243H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1063H|SLC19A1_ENST00000567670.1_Intron	p.R1478H			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	36	4454	+			1478			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.4433G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826957|3.826957	0.71143|0.71143	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000423214|ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.|T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01	3.69|3.69	3.69|3.69	0.42338|0.42338	.|Collagenase NC10/endostatin (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.78553|0.78553	0.4301|0.4301	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.74674	.|0.984;0.984;0.973;0.951	T|T	0.82323|0.82323	-0.0514|-0.0514	5|10	.|0.87932	.|D	.|0	.|.	12.5374|12.5374	0.56150|0.56150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1478;1060;1243;1063	.|P39060;D3DSM4;P39060-1;P39060-2	.|COIA1_HUMAN;.;.;.	T|H	59|1063;1063;1243;1478;1478;411	.|ENSP00000383191:R1063H;ENSP00000347665:R1243H;ENSP00000352798:R1478H;ENSP00000339118:R411H	.|ENSP00000339118:R411H	A|R	+|+	1|2	0|0	COL18A1|COL18A1	45750280|45750280	0.985000|0.985000	0.35326|0.35326	0.811000|0.811000	0.32455|0.32455	0.351000|0.351000	0.29236|0.29236	4.484000|4.484000	0.60271|0.60271	1.790000|1.790000	0.52503|0.52503	0.491000|0.491000	0.48974|0.48974	GCG|CGC		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			41	91	0	0	0	0.847076	0	41	91				
PDHB	5162	broad.mit.edu	37	3	58413838	58413838	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:58413838C>A	ENST00000302746.6	-	10	1045	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S	PDHB_ENST00000474765.1_3'UTR|RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Missense_Mutation_p.A317S	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	335					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	AGAATCTTTGCATAAGGCATA	0.418																																						ENST00000302746.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9						c.(1003-1005)Gca>Tca		pyruvate dehydrogenase (lipoamide) beta	NADH(DB00157)|Pyruvic acid(DB00119)						77.0	72.0	74.0					3																	58413838		2203	4300	6503	SO:0001583	missense	5162				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr3:58413838C>A		CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.1003G>T	3.37:g.58413838C>A	ENSP00000307241:p.Ala335Ser					PDHB_ENST00000485460.1_Missense_Mutation_p.A317S|PDHB_ENST00000474765.1_3'UTR	p.A335S	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	10	1045	-			335					B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	ENST00000302746.6	37	c.1003G>T	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498153	0.85069	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460	D;D;D	0.91351	-2.83;-2.83;-2.83	5.64	5.64	0.86602	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	L	0.38733	1.17	0.80722	D	1	B;B;B	0.22541	0.001;0.007;0.071	B;B;B	0.39068	0.213;0.136;0.289	D	0.86060	0.1531	10	0.48119	T	0.1	-10.5232	19.8946	0.96949	0.0:1.0:0.0:0.0	.	317;317;335	B4DDD7;P11177-2;P11177	.;.;ODPB_HUMAN	S	335;317;317	ENSP00000307241:A335S;ENSP00000373220:A317S;ENSP00000417267:A317S	ENSP00000307241:A335S	A	-	1	0	PDHB	58388878	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.289000	0.78701	2.937000	0.99478	0.650000	0.86243	GCA		0.418	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1			3	71	1	0	0.115264	0.115264	0.121027	3	71				
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C	rs562396488	byFrequency	TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592													.|||	73	0.0145767	0.0151	0.0144	5008	,	,		14193	0.0159		0.0189	False		,,,				2504	0.0082					ENST00000463781.3																			2	Substitution - Missense(2)	p.D4213G(2)	endometrium(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12637-12639)gAc>gGc		mucin 4, cell surface associated							26.0	23.0	24.0					3																	195505813		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12638A>G	3.37:g.195505813T>C	ENSP00000417498:p.Asp4213Gly					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13097	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12638A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.784645	0.00628	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.46	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24190	-1.0167	7	.	.	.	.	3.8908	0.09117	0.0:0.332:0.0:0.668	.	4085	E7ESK3	.	G	4213	ENSP00000417498:D4213G;ENSP00000420243:D4213G	.	D	-	2	0	MUC4	196990592	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.874000	0.01133	-1.876000	0.00548	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	3	0	0	0	0.115264	0	2	3				
SMOC1	64093	broad.mit.edu	37	14	70490099	70490099	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:70490099A>T	ENST00000381280.4	+	11	1479	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	SMOC1_ENST00000361956.3_Missense_Mutation_p.D409V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	409	EF-hand 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACTACTGTGACCTGAACAAA	0.522																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(1225-1227)gAc>gTc		SPARC related modular calcium binding 1							214.0	196.0	202.0					14																	70490099		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70490099A>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1226A>T	14.37:g.70490099A>T	ENSP00000370680:p.Asp409Val					SMOC1_ENST00000361956.3_Missense_Mutation_p.D409V	p.D409V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	11	1479	+			409			EF-hand 2.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.1226A>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597078	0.87055	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	D;D	0.84873	-1.89;-1.91	5.34	5.34	0.76211	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.93757	0.7063	10	0.87932	D	0	-24.6884	15.596	0.76583	1.0:0.0:0.0:0.0	.	409;409	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	V	409	ENSP00000355110:D409V;ENSP00000370680:D409V	ENSP00000355110:D409V	D	+	2	0	SMOC1	69559852	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.209000	0.95087	2.132000	0.65825	0.533000	0.62120	GAC		0.522	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			5	176	0	0	0	0.184627	0	5	176				
LCOR	84458	broad.mit.edu	37	10	98709000	98709000	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:98709000C>G	ENST00000371097.4	+	6	732	c.186C>G	c.(184-186)gaC>gaG	p.D62E	LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000356016.3_Missense_Mutation_p.D62E|LCOR_ENST00000371103.3_Missense_Mutation_p.D62E|LCOR_ENST00000540664.1_Missense_Mutation_p.D62E			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTGACCAAGACTCACCTCTGG	0.483																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(184-186)gaC>gaG		ligand dependent nuclear receptor corepressor							164.0	153.0	157.0					10																	98709000		2203	4300	6503	SO:0001583	missense	84458							g.chr10:98709000C>G		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.186C>G	10.37:g.98709000C>G	ENSP00000360138:p.Asp62Glu					LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Missense_Mutation_p.D62E|LCOR_ENST00000371097.4_Missense_Mutation_p.D62E|LCOR_ENST00000356016.3_Missense_Mutation_p.D62E	p.D62E	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	6	729	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.186C>G	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250236	0.39797	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	4.85	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	L	0.28458	0.855	0.34631	D	0.71961	D;D	0.71674	0.996;0.998	D;D	0.68621	0.91;0.959	T	0.54827	-0.8235	9	0.17832	T	0.49	-3.252	9.7666	0.40565	0.0:0.8404:0.0:0.1596	.	62;62	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	E	62	.	ENSP00000348298:D62E	D	+	3	2	LCOR	98698990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.989000	0.29629	1.154000	0.42482	-0.145000	0.13849	GAC		0.483	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			77	125	0	0	0	0.870114	0	77	125				
GABRG3	2567	broad.mit.edu	37	15	27574011	27574011	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:27574011T>C	ENST00000333743.6	+	5	804	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P	GABRG3_ENST00000555083.1_Missense_Mutation_p.S184P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	184					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGACGAACACTCCTGCCCGCT	0.557																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(550-552)Tcc>Ccc		gamma-aminobutyric acid (GABA) A receptor, gamma 3							85.0	86.0	86.0					15																	27574011		2138	4253	6391	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27574011T>C		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.550T>C	15.37:g.27574011T>C	ENSP00000331912:p.Ser184Pro					GABRG3_ENST00000555083.1_Missense_Mutation_p.S184P	p.S184P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	5	804	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	184					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.550T>C	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036106	0.75617	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.79845	-1.31;-1.31;-1.31	5.35	4.21	0.49690	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.056110	0.85682	D	0.000000	D	0.90130	0.6916	M	0.88570	2.965	0.44736	D	0.997736	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.994	D	0.90886	0.4757	10	0.87932	D	0	.	11.705	0.51592	0.0:0.0:0.1537:0.8463	.	184;184	Q99928;G3V594	GBRG3_HUMAN;.	P	184;184;126	ENSP00000331912:S184P;ENSP00000452244:S184P;ENSP00000451862:S126P	ENSP00000331912:S184P	S	+	1	0	GABRG3	25156757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.648000	0.67930	0.965000	0.38133	0.460000	0.39030	TCC		0.557	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			14	31	0	0	0	0.457914	0	14	31				
FAN1	22909	broad.mit.edu	37	15	31202868	31202868	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:31202868A>G	ENST00000362065.4	+	4	1718	c.1427A>G	c.(1426-1428)gAa>gGa	p.E476G	FAN1_ENST00000565466.1_Missense_Mutation_p.E476G|FAN1_ENST00000561594.1_Missense_Mutation_p.E476G|FAN1_ENST00000561607.1_Missense_Mutation_p.E476G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	476					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCTGCTCCTGAACTAAAATCC	0.403								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1426-1428)gAa>gGa	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							71.0	71.0	71.0					15																	31202868		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202868A>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1427A>G	15.37:g.31202868A>G	ENSP00000354497:p.Glu476Gly					FAN1_ENST00000561594.1_Missense_Mutation_p.E476G|FAN1_ENST00000561607.1_Missense_Mutation_p.E476G|FAN1_ENST00000565466.1_Missense_Mutation_p.E476G	p.E476G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			4	1718	+			476					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1427A>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096590	0.76870	.	.	ENSG00000198690	ENST00000362065	T	0.55588	0.51	5.49	4.36	0.52297	.	0.053438	0.64402	N	0.000001	T	0.64735	0.2625	M	0.91300	3.195	0.58432	D	0.999994	P;P;P	0.47762	0.84;0.516;0.9	B;B;P	0.46339	0.332;0.235;0.513	T	0.70684	-0.4804	10	0.72032	D	0.01	-20.5797	9.9752	0.41779	0.9227:0.0:0.0773:0.0	.	476;476;476	Q9Y2M0;D9MXF4;Q9Y2M0-2	FAN1_HUMAN;.;.	G	476	ENSP00000354497:E476G	ENSP00000354497:E476G	E	+	2	0	FAN1	28990160	1.000000	0.71417	0.798000	0.32154	0.986000	0.74619	8.962000	0.93254	0.920000	0.36970	0.455000	0.32223	GAA		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		6	108	0	0	0	0.248553	0	6	108				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	71	0	0	0	0.115264	0	3	71				
PTPN5	84867	broad.mit.edu	37	11	18754164	18754164	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:18754164T>C	ENST00000358540.2	-	12	1734	c.1304A>G	c.(1303-1305)tAc>tGc	p.Y435C	PTPN5_ENST00000396171.4_Missense_Mutation_p.Y435C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y239C|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y411C|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y403C|PTPN5_ENST00000396170.1_Missense_Mutation_p.Y403C|PTPN5_ENST00000396166.3_5'Flank	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	435	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGCAGCCGGTAATCCTCCGT	0.592											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(1207-1209)tAc>tGc		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							176.0	162.0	166.0					11																	18754164		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18754164T>C	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1304A>G	11.37:g.18754164T>C	ENSP00000351342:p.Tyr435Cys		OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	PTPN5_ENST00000396171.4_Missense_Mutation_p.Y435C|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y411C|PTPN5_ENST00000358540.2_Missense_Mutation_p.Y435C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y403C|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y239C	p.Y403C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			12	2472	-			435			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.1208A>G	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408777	0.83340	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.29	5.29	0.74685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000002	T	0.67344	0.2883	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75569	-0.3272	10	0.87932	D	0	.	13.9599	0.64172	0.0:0.0:0.0:1.0	.	435;403	P54829;B3KXG7	PTN5_HUMAN;.	C	239;435;403;435;403;411	ENSP00000435056:Y239C;ENSP00000351342:Y435C;ENSP00000379473:Y403C;ENSP00000379474:Y435C;ENSP00000379470:Y403C;ENSP00000379471:Y411C	ENSP00000351342:Y435C	Y	-	2	0	PTPN5	18710740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.676000	0.74498	2.234000	0.73211	0.533000	0.62120	TAC		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		6	258	0	0	0	0.278610	0	6	258				
DMKN	93099	broad.mit.edu	37	19	36002345	36002345	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36002345T>C	ENST00000339686.3	-	5	1062	c.886A>G	c.(886-888)Agc>Ggc	p.S296G	DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S296G|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S296G|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S296G|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S296G|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S296G|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000462126.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	296	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTctgctgccaccactg	0.647																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(886-888)Agc>Ggc		dermokine							36.0	30.0	32.0					19																	36002345		2202	4296	6498	SO:0001583	missense	93099					extracellular region		g.chr19:36002345T>C	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.886A>G	19.37:g.36002345T>C	ENSP00000342012:p.Ser296Gly					DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S296G|DMKN_ENST00000440396.1_Missense_Mutation_p.S296G|DMKN_ENST00000424570.2_Missense_Mutation_p.S296G|DMKN_ENST00000418261.1_Missense_Mutation_p.S296G|DMKN_ENST00000451297.2_Missense_Mutation_p.S296G	p.S296G	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	1062	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		296			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.886A>G	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	1.829	-0.470266	0.04445	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.25579	2.39;1.79;1.81;1.93;1.81;2.11	3.24	-3.15	0.05233	.	1.841560	0.03069	N	0.156841	T	0.22551	0.0544	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.12013	0.002;0.002;0.002;0.002;0.005	B;B;B;B;B	0.12156	0.002;0.002;0.002;0.002;0.007	T	0.25710	-1.0124	10	0.25751	T	0.34	2.9704	10.1708	0.42908	0.0:0.6664:0.0:0.3336	.	296;296;296;296;296	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	G	296	ENSP00000342012:S296G;ENSP00000394908:S296G;ENSP00000415277:S296G;ENSP00000414743:S296G;ENSP00000388404:S296G;ENSP00000409513:S296G	ENSP00000342012:S296G	S	-	1	0	DMKN	40694185	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.754000	0.01816	-0.831000	0.04256	-0.441000	0.05720	AGC		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		6	4	0	0	0	0.411799	0	6	4				
CLIP1	6249	broad.mit.edu	37	12	122758652	122758652	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr12:122758652T>C	ENST00000540338.1	-	24	4065	c.4024A>G	c.(4024-4026)Atg>Gtg	p.M1342V	CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000361654.4_Missense_Mutation_p.M1220V|CLIP1_ENST00000545889.1_Missense_Mutation_p.M917V|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1296V|CLIP1_ENST00000540539.1_Missense_Mutation_p.M21V|CLIP1_ENST00000302528.7_Missense_Mutation_p.M1331V|CLIP1_ENST00000358808.2_Missense_Mutation_p.M1331V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1342					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCACCTTCATCTTGAGGTCT	0.343																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3991-3993)Atg>Gtg		CAP-GLY domain containing linker protein 1							272.0	239.0	250.0					12																	122758652		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122758652T>C		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.4024A>G	12.37:g.122758652T>C	ENSP00000439093:p.Met1342Val					CLIP1_ENST00000545889.1_Missense_Mutation_p.M917V|CLIP1_ENST00000540338.1_Missense_Mutation_p.M1342V|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1296V|CLIP1_ENST00000361654.4_Missense_Mutation_p.M1220V|CLIP1_ENST00000302528.7_Missense_Mutation_p.M1331V|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_Missense_Mutation_p.M21V	p.M1331V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	24	4145	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1342					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3991A>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	4.671	0.124713	0.08931	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540539;ENST00000540338	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.95	4.79	0.61399	.	0.397878	0.30879	N	0.008693	T	0.08537	0.0212	N	0.14661	0.345	0.23865	N	0.996627	B;B;B	0.12630	0.006;0.006;0.004	B;B;B	0.17979	0.02;0.02;0.009	T	0.40627	-0.9553	10	0.05436	T	0.98	-16.4799	2.891	0.05676	0.1415:0.0724:0.2612:0.5249	.	1296;1331;1342	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	917;1331;1331;1063;375;1296;21;1342	ENSP00000438743:M917V;ENSP00000303585:M1331V;ENSP00000351665:M1331V;ENSP00000445531:M1296V;ENSP00000437617:M21V;ENSP00000439093:M1342V	ENSP00000303585:M1331V	M	-	1	0	CLIP1	121324605	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.518000	0.22847	1.042000	0.40150	0.460000	0.39030	ATG		0.343	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		127	197	0	0	0	0.870114	0	127	197				
FAM179A	165186	broad.mit.edu	37	2	29247207	29247207	+	Missense_Mutation	SNP	G	G	A	rs371689354	byFrequency	TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:29247207G>A	ENST00000379558.4	+	13	2171	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R552H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	607										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCTTGCCCGCTCCCTGGTG	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15452	0.0		0.0	False		,,,				2504	0.0					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1819-1821)cGc>cAc		family with sequence similarity 179, member A		G	HIS/ARG	3,4111		0,3,2054	37.0	38.0	38.0		1820	4.1	1.0	2		38	0,8402		0,0,4201	no	missense	FAM179A	NM_199280.2	29	0,3,6255	AA,AG,GG		0.0,0.0729,0.024	probably-damaging	607/1020	29247207	3,12513	2057	4201	6258	SO:0001583	missense	165186						binding	g.chr2:29247207G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1820G>A	2.37:g.29247207G>A	ENSP00000368876:p.Arg607His					FAM179A_ENST00000403861.2_Missense_Mutation_p.R552H|FAM179A_ENST00000465300.1_3'UTR	p.R607H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			13	2171	+			607					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1820G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163639	0.57476	7.29E-4	0.0	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.99	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.218239	0.29587	N	0.011739	T	0.39064	0.1064	M	0.64567	1.98	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.966;0.98	T	0.07635	-1.0762	10	0.51188	T	0.08	.	9.7704	0.40587	0.162:0.0:0.838:0.0	.	552;607	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	42;607;552;102	ENSP00000384897:R42H;ENSP00000368876:R607H;ENSP00000384699:R552H;ENSP00000396739:R102H	ENSP00000368876:R607H	R	+	2	0	FAM179A	29100711	0.126000	0.22350	0.964000	0.40570	0.416000	0.31233	2.223000	0.42936	2.299000	0.77371	0.462000	0.41574	CGC		0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		5	19	0	0	0	0.217242	0	5	19				
SLC25A36	55186	broad.mit.edu	37	3	140682063	140682063	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:140682063A>G	ENST00000324194.6	+	4	547	c.379A>G	c.(379-381)Atg>Gtg	p.M127V	SLC25A36_ENST00000446041.2_Missense_Mutation_p.M127V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.M101V|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Missense_Mutation_p.M127V			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	127					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGCTGCAATGGCAGGTAT	0.289																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(379-381)Atg>Gtg		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							57.0	55.0	56.0					3																	140682063		2203	4292	6495	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140682063A>G	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.379A>G	3.37:g.140682063A>G	ENSP00000320688:p.Met127Val					SLC25A36_ENST00000507429.1_Missense_Mutation_p.M127V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.M101V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.M127V|SLC25A36_ENST00000393015.4_3'UTR	p.M127V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			4	604	+			127					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.379A>G	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	A	0.531	-0.857657	0.02630	.	.	ENSG00000114120	ENST00000446041;ENST00000507429;ENST00000324194;ENST00000453248;ENST00000513887	T;T;T;T;T	0.76839	-1.05;-1.04;-1.05;-1.05;-1.04	5.21	4.05	0.47172	Mitochondrial carrier domain (2);	0.207947	0.64402	N	0.000013	T	0.52709	0.1751	N	0.04162	-0.26	0.34730	D	0.72962	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.52457	-0.8573	10	0.27785	T	0.31	-4.3094	6.947	0.24524	0.8199:0.0:0.1801:0.0	.	101;127;127;127	B4DL01;Q96CQ1-3;Q96CQ1;F6SDC8	.;.;S2536_HUMAN;.	V	127;127;127;101;51	ENSP00000401938:M127V;ENSP00000421470:M127V;ENSP00000320688:M127V;ENSP00000391521:M101V;ENSP00000422265:M51V	ENSP00000320688:M127V	M	+	1	0	SLC25A36	142164753	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	1.533000	0.36040	0.934000	0.37316	0.454000	0.30748	ATG		0.289	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		45	85	0	0	0	0.840704	0	45	85				
CDC42BPA	8476	broad.mit.edu	37	1	227348328	227348328	+	Silent	SNP	T	T	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:227348328T>C	ENST00000366769.3	-	6	1900	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CDC42BPA_ENST00000535525.1_Silent_p.K203K|CDC42BPA_ENST00000366766.2_Silent_p.K203K|CDC42BPA_ENST00000366765.3_Silent_p.K203K|CDC42BPA_ENST00000366767.3_Silent_p.K203K|CDC42BPA_ENST00000366764.2_Silent_p.K203K|CDC42BPA_ENST00000334218.5_Silent_p.K203K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTGTCAGGTTTAATGTCTC	0.284																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(607-609)aaA>aaG		CDC42 binding protein kinase alpha (DMPK-like)							97.0	101.0	100.0					1																	227348328		2203	4299	6502	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227348328T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.609A>G	1.37:g.227348328T>C						CDC42BPA_ENST00000366767.3_Silent_p.K203K|CDC42BPA_ENST00000366766.2_Silent_p.K203K|CDC42BPA_ENST00000334218.5_Silent_p.K203K|CDC42BPA_ENST00000366764.2_Silent_p.K203K|CDC42BPA_ENST00000366765.3_Silent_p.K203K|CDC42BPA_ENST00000535525.1_Silent_p.K203K	p.K203K	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			6	1900	-		all_cancers(173;0.156)|Prostate(94;0.0792)	203			Protein kinase.			Silent	SNP	ENST00000366769.3	37	c.609A>G	CCDS1558.1																																																																																				0.284	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		50	99	0	0	0	0.870114	0	50	99				
DLX5	1749	broad.mit.edu	37	7	96651642	96651642	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:96651642C>A	ENST00000222598.4	-	2	868	c.395G>T	c.(394-396)gGc>gTc	p.G132V	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.G132V	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	132					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTTTGGTTTGCCATTCACCAT	0.463																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(394-396)gGc>gTc		distal-less homeobox 5							134.0	130.0	131.0					7																	96651642		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651642C>A		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.395G>T	7.37:g.96651642C>A	ENSP00000222598:p.Gly132Val					DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.G132V	p.G132V	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	868	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		132					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.395G>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872857	0.91587	.	.	ENSG00000105880	ENST00000222598	D	0.91577	-2.87	5.28	5.28	0.74379	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.81942	2.565	0.80722	D	1	D;P	0.89917	1.0;0.94	D;P	0.91635	0.999;0.833	D	0.95565	0.8633	10	0.66056	D	0.02	-13.3259	18.7072	0.91643	0.0:1.0:0.0:0.0	.	132;132	B7Z4P3;P56178	.;DLX5_HUMAN	V	132	ENSP00000222598:G132V	ENSP00000222598:G132V	G	-	2	0	DLX5	96489578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.752000	0.94435	0.467000	0.42956	GGC		0.463	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			53	89	1	0	7.91745e-34	0.870114	9.78038e-34	53	89				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	63	0	0	0	0.729181	0	28	63				
COL6A3	1293	broad.mit.edu	37	2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3991-3993)cGc>cAc		collagen, type VI, alpha 3							32.0	31.0	32.0					2																	238280668		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280668C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3992G>A	2.37:g.238280668C>T	ENSP00000295550:p.Arg1331His					COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H	p.R1331H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4444	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1331			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3992G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228028	0.95173	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.84	5.84	0.93424	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000053	D	0.85305	0.5666	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89189	0.3549	10	0.66056	D	0.02	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	724;924;1125;1125;1331	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1331;1130;1125;724;1125;1131;1125;924	ENSP00000295550:R1331H;ENSP00000315609:R1130H;ENSP00000315873:R1125H;ENSP00000418285:R724H;ENSP00000386844:R1125H;ENSP00000295546:R1131H;ENSP00000375861:R1125H;ENSP00000375860:R924H	ENSP00000295550:R1331H	R	-	2	0	COL6A3	237945407	1.000000	0.71417	0.983000	0.44433	0.690000	0.40134	6.024000	0.70857	2.765000	0.95021	0.655000	0.94253	CGC		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		28	39	0	0	0	0.693898	0	28	39				
KMT2B	9757	broad.mit.edu	37	19	36218411	36218411	+	Missense_Mutation	SNP	C	C	T	rs368960815		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36218411C>T	ENST00000222270.7	+	16	4190	c.4190C>T	c.(4189-4191)gCg>gTg	p.A1397V	KMT2B_ENST00000420124.1_Missense_Mutation_p.A1397V|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1397					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTGGGGCAGCGCAGCCCCGC	0.657																																						ENST00000420124.1																			0											c.(4189-4191)gCg>gTg				C	VAL/ALA	1,3835		0,1,1917	74.0	75.0	74.0		4190	4.4	0.6	19		74	0,8224		0,0,4112	no	missense	MLL4	NM_014727.1	64	0,1,6029	TT,TC,CC		0.0,0.0261,0.0083	possibly-damaging	1397/2716	36218411	1,12059	1918	4112	6030	SO:0001583	missense	0							g.chr19:36218411C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4190C>T	19.37:g.36218411C>T	ENSP00000222270:p.Ala1397Val					WBP7_ENST00000222270.7_Missense_Mutation_p.A1397V|KMT2B_ENST00000607650.1_RNA	p.A1397V							16	4190	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4190C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250608	0.10130	2.61E-4	0.0	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.86956	-2.19;-2.19	5.43	4.4	0.53042	Zinc finger, FYVE/PHD-type (1);	0.304873	0.23635	N	0.046091	T	0.77418	0.4127	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.58515	-0.7623	10	0.13853	T	0.58	.	13.4389	0.61101	0.0:0.9234:0.0:0.0765	.	1397	Q9UMN6	MLL4_HUMAN	V	1397	ENSP00000222270:A1397V;ENSP00000398837:A1397V	ENSP00000222270:A1397V	A	+	2	0	AD000671.1	40910251	0.245000	0.23899	0.552000	0.28243	0.038000	0.13279	1.027000	0.30115	1.535000	0.49220	-0.149000	0.13747	GCG		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		5	152	0	0	0	0.248553	0	5	152				
AC027612.3	0	broad.mit.edu	37	2	91899558	91899559	+	RNA	INS	-	-	AAAGAGGAAGGTAAGA	rs141170900		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:91899558_91899559insAAAGAGGAAGGTAAGA	ENST00000436174.1	-	0	168																											GATAAGGAGTCAAAGAGGAAGG	0.292																																						ENST00000436174.1																			0																																																			0							g.chr2:91899558_91899559insAAAGAGGAAGGTAAGA																													2.37:g.91899558_91899559insAAAGAGGAAGGTAAGA														0	168	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			2	4						2	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67522794	67522795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr5:67522794_67522795insG	ENST00000521381.1	+	2	907_908	c.291_292insG	c.(292-294)gcafs	p.A98fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A98fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	98					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTCTTCCTGTTGCACCAGGTTC	0.455			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		1	Whole gene deletion(1)	p.0?(1)	large_intestine(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(289-294)gtcaccfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67522794_67522795insG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.292dupG	5.37:g.67522795_67522795dupG	ENSP00000428056:p.Ala98fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.T98fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.T98fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.T98fs	p.T98fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	2	907_908	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	98					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.291_292insG	CCDS3993.1																																																																																				0.455	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		36	98						36	98	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7128074	7128075	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr9:7128074_7128075delGG	ENST00000381309.3	+	19	3184_3185	c.2619_2620delGG	c.(2617-2622)aaggctfs	p.KA873fs	KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Frame_Shift_Del_p.KA560fs|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.KA618fs|KDM4C_ENST00000381306.3_Frame_Shift_Del_p.KA873fs	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	873					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTCCAAGGCTTGCGAGAA	0.411																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2617-2622)aactfs		lysine (K)-specific demethylase 4C																																				SO:0001589	frameshift_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7128074_7128075delGG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2619_2620delGG	9.37:g.7128074_7128075delGG	ENSP00000370710:p.Lys873fs					KDM4C_ENST00000428870.2_Frame_Shift_Del_p.KA560fs|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.KA618fs|KDM4C_ENST00000381306.3_Frame_Shift_Del_p.KA873fs	p.KA873fs	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			19	3184_3185	+			873					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Frame_Shift_Del	DEL	ENST00000381309.3	37	c.2619_2620delGG	CCDS6471.1																																																																																				0.411	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		34	79						34	79	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680465	61680473	+	lincRNA	DEL	TCCTCTTCC	TCCTCTTCC	-	rs13045094		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr20:61680465_61680473delTCCTCTTCC	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						ctcctcctcttcctcttcctcctcctcct	0.598																																						ENST00000607802.1																			0																																																			0							g.chr20:61680465_61680473delTCCTCTTCC																													20.37:g.61680465_61680473delTCCTCTTCC						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	DEL	ENST00000607802.1	37																																																																																						0.598	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
