#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
KRTAP10-5	386680	broad.mit.edu	37	21	45999780	45999780	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:45999780G>A	ENST00000400372.1	-	1	701	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CATATGGGGCGGCAGAGGAGG	0.682																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(676-678)Cgc>Tgc		keratin associated protein 10-5							68.0	79.0	75.0					21																	45999780		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999780G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.676C>T	21.37:g.45999780G>A	ENSP00000383223:p.Arg226Cys					TSPEAR_ENST00000323084.4_Intron	p.R226C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	701	-			226			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.676C>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.482490	0.26598	.	.	ENSG00000241123	ENST00000400372	T	0.01005	5.45	3.39	1.45	0.22620	.	.	.	.	.	T	0.04318	0.0119	M	0.84511	2.7	0.35138	D	0.768568	D	0.89917	1.0	D	0.81914	0.995	T	0.28332	-1.0047	9	0.72032	D	0.01	.	4.2352	0.10621	0.1143:0.0:0.4732:0.4125	.	226	P60370	KR105_HUMAN	C	226	ENSP00000383223:R226C	ENSP00000383223:R226C	R	-	1	0	KRTAP10-5	44824208	0.022000	0.18835	0.932000	0.37286	0.091000	0.18340	0.064000	0.14437	0.227000	0.20999	-0.373000	0.07131	CGC		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			67	81	0	0	0	1	0	67	81				
IRGQ	126298	broad.mit.edu	37	19	44097143	44097143	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:44097143C>T	ENST00000602269.1	-	2	1092	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	IRGQ_ENST00000422989.1_Missense_Mutation_p.V303I|L34079.2_ENST00000594374.1_Missense_Mutation_p.V16I|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	303	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGGGGTGACGAGGATGAGG	0.692																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(907-909)Gtc>Atc		immunity-related GTPase family, Q							46.0	45.0	45.0					19																	44097143		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44097143C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.907G>A	19.37:g.44097143C>T	ENSP00000472250:p.Val303Ile					IRGQ_ENST00000602269.1_Missense_Mutation_p.V303I|L34079.2_ENST00000594374.1_Missense_Mutation_p.V16I|IRGQ_ENST00000601520.1_5'UTR	p.V303I	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1062	-		Prostate(69;0.0199)	303					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.907G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913359	0.72983	.	.	ENSG00000167378	ENST00000422989	T	0.50277	0.75	4.5	4.5	0.54988	.	0.165435	0.39687	N	0.001291	T	0.55752	0.1940	L	0.43923	1.385	0.30476	N	0.772851	D	0.71674	0.998	D	0.75484	0.986	T	0.47249	-0.9132	10	0.13853	T	0.58	-11.5759	13.0111	0.58731	0.0:1.0:0.0:0.0	.	303	Q8WZA9	IRGQ_HUMAN	I	303	ENSP00000387535:V303I	ENSP00000387535:V303I	V	-	1	0	IRGQ	48788983	0.864000	0.29904	0.986000	0.45419	0.991000	0.79684	1.384000	0.34396	2.782000	0.95742	0.655000	0.94253	GTC		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		14	33	0	0	0	1	0	14	33				
SPAG17	200162	broad.mit.edu	37	1	118527386	118527386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:118527386G>A	ENST00000336338.5	-	41	5754	c.5689C>T	c.(5689-5691)Cag>Tag	p.Q1897*	SPAG17_ENST00000492438.1_5'Flank	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1897						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGGTAATTCTGTGTTGTCTCA	0.318																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5689-5691)Cag>Tag		sperm associated antigen 17							175.0	181.0	179.0					1																	118527386		2202	4300	6502	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118527386G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5689C>T	1.37:g.118527386G>A	ENSP00000337804:p.Gln1897*						p.Q1897*	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	41	5754	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1897					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.5689C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981139	0.74474	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	.	.	.	6.02	-7.12	0.01537	.	1.072300	0.07069	N	0.835079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.0684	0.89398	0.0:0.081:0.132:0.787	.	.	.	.	X	1897;377	.	ENSP00000337804:Q1897X	Q	-	1	0	SPAG17	118328909	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.088000	0.03379	-1.862000	0.01151	-2.216000	0.00297	CAG		0.318	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		22	36	0	0	0	1	0	22	36				
ZNF536	9745	broad.mit.edu	37	19	31025808	31025808	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:31025808G>A	ENST00000355537.3	+	3	2372	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCTGCTTCGCGACAGAAGC	0.572																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2224-2226)cGc>cAc		zinc finger protein 536							111.0	112.0	112.0					19																	31025808		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025808G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2225G>A	19.37:g.31025808G>A	ENSP00000347730:p.Arg742His						p.R742H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			3	2372	+	Esophageal squamous(110;0.0834)		742					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2225G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622785	0.87460	.	.	ENSG00000198597	ENST00000355537	T	0.11063	2.81	5.81	5.81	0.92471	.	0.114428	0.64402	D	0.000014	T	0.18882	0.0453	N	0.19112	0.55	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.05616	-1.0874	10	0.07030	T	0.85	-36.0487	20.0912	0.97820	0.0:0.0:1.0:0.0	.	742;742	A7E228;O15090	.;ZN536_HUMAN	H	742	ENSP00000347730:R742H	ENSP00000347730:R742H	R	+	2	0	ZNF536	35717648	1.000000	0.71417	0.759000	0.31340	0.971000	0.66376	9.860000	0.99555	2.746000	0.94184	0.591000	0.81541	CGC		0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		60	79	0	0	0	1	0	60	79				
IGKV1D-8	28904	broad.mit.edu	37	2	90260152	90260152	+	RNA	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:90260152T>C	ENST00000471857.1	+	0	436									immunoglobulin kappa variable 1D-8																		CAAGGTTCAGTGGCAGTGGAT	0.468																																						ENST00000471857.1																			0																				132.0	143.0	139.0					2																	90260152		1859	4100	5959			28904							g.chr2:90260152T>C	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260152T>C														0	436	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.468	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		64	136	0	0	0	1	0	64	136				
KLHL38	340359	broad.mit.edu	37	8	124664536	124664536	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:124664536G>A	ENST00000325995.7	-	1	654	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	211	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TATCGCTTCCGGGCCTGGAGG	0.552																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(631-633)Cgg>Tgg		kelch-like family member 38							61.0	65.0	64.0					8																	124664536		2109	4222	6331	SO:0001583	missense	340359							g.chr8:124664536G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.631C>T	8.37:g.124664536G>A	ENSP00000321475:p.Arg211Trp					CTD-2552K11.2_ENST00000524355.1_RNA	p.R211W	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	654	-			211			BACK.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.631C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386443	0.61956	.	.	ENSG00000175946	ENST00000325995	T	0.74209	-0.82	5.84	5.84	0.93424	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89914	0.6853	H	0.94345	3.525	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.92063	0.5658	10	0.87932	D	0	.	15.5049	0.75731	0.0:0.0:0.7992:0.2008	.	211	Q2WGJ6	KLH38_HUMAN	W	211	ENSP00000321475:R211W	ENSP00000321475:R211W	R	-	1	2	KLHL38	124733717	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	3.121000	0.50438	2.768000	0.95171	0.561000	0.74099	CGG		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			36	58	0	0	0	1	0	36	58				
GNRHR	2798	broad.mit.edu	37	4	68620092	68620092	+	5'Flank	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr4:68620092T>C	ENST00000226413.4	-	0	0				GNRHR_ENST00000420975.2_5'Flank|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor						cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GTGTCTCTGGTGCATCTGATA	0.403																																						ENST00000500538.2																			0																				37.0	39.0	38.0					4																	68620092		2041	4188	6229	SO:0001631	upstream_gene_variant	550112							g.chr4:68620092T>C		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302		4.37:g.68620092T>C	Exception_encountered					RP11-453E17.1_ENST00000502758.1_RNA								0	1838	+								O75793|Q14D13|Q92644	RNA	SNP	ENST00000226413.4	37		CCDS3517.1																																																																																				0.403	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			14	28	0	0	0	1	0	14	28				
MAST1	22983	broad.mit.edu	37	19	12969377	12969377	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:12969377G>A	ENST00000251472.4	+	12	1229	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	MAST1_ENST00000591495.1_Missense_Mutation_p.R393Q	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCGACACGCGGCAGCGCTTT	0.647																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1189-1191)cGg>cAg		microtubule associated serine/threonine kinase 1							72.0	64.0	67.0					19																	12969377		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969377G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1190G>A	19.37:g.12969377G>A	ENSP00000251472:p.Arg397Gln					MAST1_ENST00000591495.1_Missense_Mutation_p.R393Q	p.R397Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1229	+			397			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1190G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907257	0.52333	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.24151	1.87	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068973	0.64402	D	0.000017	T	0.35537	0.0935	N	0.17564	0.495	0.22819	N	0.998695	D;B	0.89917	1.0;0.325	D;B	0.91635	0.999;0.063	T	0.22800	-1.0206	10	0.87932	D	0	-27.5679	15.6086	0.76696	0.0:0.0:1.0:0.0	.	397;397	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	Q	397	ENSP00000251472:R397Q	ENSP00000251472:R397Q	R	+	2	0	MAST1	12830377	0.994000	0.37717	0.331000	0.25455	0.164000	0.22412	6.643000	0.74334	2.363000	0.80096	0.561000	0.74099	CGG		0.647	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		24	36	0	0	0	1	0	24	36				
CEACAM6	4680	broad.mit.edu	37	19	42260735	42260735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:42260735C>T	ENST00000199764.6	+	2	510	c.292C>T	c.(292-294)Cga>Tga	p.R98*	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	98	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATACAGTGGTCGAGAGACAAT	0.458																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(292-294)Cga>Tga		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							306.0	288.0	295.0					19																	42260735		2203	4300	6503	SO:0001587	stop_gained	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260735C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.292C>T	19.37:g.42260735C>T	ENSP00000199764:p.Arg98*					CEA_ENST00000598976.1_Intron	p.R98*	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	510	+			98			Ig-like V-type.		Q13774|Q14920|Q53XP7	Nonsense_Mutation	SNP	ENST00000199764.6	37	c.292C>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980802	0.74474	.	.	ENSG00000086548	ENST00000199764	.	.	.	2.55	0.0355	0.14188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3322	0.11069	0.2709:0.4906:0.2385:0.0	.	.	.	.	X	98	.	ENSP00000199764:R98X	R	+	1	2	CEACAM6	46952575	0.004000	0.15560	0.100000	0.21137	0.032000	0.12392	-0.338000	0.07842	-0.254000	0.09500	0.305000	0.20034	CGA		0.458	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			9	296	0	0	0	1	0	9	296				
GEMIN5	25929	broad.mit.edu	37	5	154311746	154311746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:154311746G>A	ENST00000285873.7	-	4	649	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	192					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCATGGCCTCGAAGCCTATGA	0.378																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(574-576)Cga>Tga		gem (nuclear organelle) associated protein 5							143.0	143.0	143.0					5																	154311746		2203	4300	6503	SO:0001587	stop_gained	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154311746G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.574C>T	5.37:g.154311746G>A	ENSP00000285873:p.Arg192*						p.R192*	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	649	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	192					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Nonsense_Mutation	SNP	ENST00000285873.7	37	c.574C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	37	6.069335	0.97256	.	.	ENSG00000082516	ENST00000285873	.	.	.	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5431	12.8838	0.58032	0.0:0.0:0.7525:0.2475	.	.	.	.	X	192	.	ENSP00000285873:R192X	R	-	1	2	GEMIN5	154291939	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.321000	0.43805	2.542000	0.85734	0.650000	0.86243	CGA		0.378	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			49	58	0	0	0	1	0	49	58				
SLC25A52	147407	broad.mit.edu	37	18	29340271	29340271	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr18:29340271A>G	ENST00000579441.2	-	1	353	c.354T>C	c.(352-354)ttT>ttC	p.F118F	SLC25A52_ENST00000269205.5_Silent_p.F128F			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	118					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CATGGGTTGCAAACTCTGGAG	0.493																																						ENST00000269205.5																			0											c.(382-384)ttT>ttC		solute carrier family 25, member 52							137.0	129.0	132.0					18																	29340271		2203	4300	6503	SO:0001819	synonymous_variant	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340271A>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.354T>C	18.37:g.29340271A>G						SLC25A52_ENST00000579441.2_Silent_p.F118F	p.F128F	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	572	-			118						Silent	SNP	ENST00000579441.2	37	c.384T>C																																																																																					0.493	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		75	119	0	0	0	1	0	75	119				
FEM1B	10116	broad.mit.edu	37	15	68582393	68582393	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:68582393G>A	ENST00000306917.4	+	2	1312	c.697G>A	c.(697-699)Gat>Aat	p.D233N		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	233					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGTAAAGCTGATGTCGTAGA	0.458																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(697-699)Gat>Aat		fem-1 homolog b (C. elegans)							129.0	122.0	124.0					15																	68582393		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582393G>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.697G>A	15.37:g.68582393G>A	ENSP00000307298:p.Asp233Asn						p.D233N	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1312	+			233					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.697G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503451	0.44558	.	.	ENSG00000169018	ENST00000306917	T	0.65364	-0.15	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.137650	0.64402	D	0.000005	T	0.69806	0.3152	L	0.43701	1.375	0.80722	D	1	P	0.49307	0.922	P	0.55785	0.784	T	0.67309	-0.5703	10	0.42905	T	0.14	-18.1209	18.9741	0.92728	0.0:0.0:1.0:0.0	.	233	Q9UK73	FEM1B_HUMAN	N	233	ENSP00000307298:D233N	ENSP00000307298:D233N	D	+	1	0	FEM1B	66369447	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	6.739000	0.74827	2.717000	0.92951	0.555000	0.69702	GAT		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			31	59	0	0	0	1	0	31	59				
XKR8	55113	broad.mit.edu	37	1	28293495	28293495	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:28293495C>T	ENST00000373884.5	+	3	1580	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	324					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGTGGGATGCGGCTGCTTCT	0.637																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(970-972)tgC>tgT		XK, Kell blood group complex subunit-related family, member 8							37.0	39.0	38.0					1																	28293495		2203	4300	6503	SO:0001819	synonymous_variant	55113					integral to membrane		g.chr1:28293495C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.972C>T	1.37:g.28293495C>T							p.C324C	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1580	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	324						Silent	SNP	ENST00000373884.5	37	c.972C>T	CCDS315.1																																																																																				0.637	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		28	48	0	0	0	1	0	28	48				
FSIP2	401024	broad.mit.edu	37	2	186672341	186672341	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:186672341A>G	ENST00000424728.1	+	17	18308	c.18308A>G	c.(18307-18309)cAa>cGa	p.Q6103R	FSIP2_ENST00000343098.5_Missense_Mutation_p.Q6192R			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6103										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGATTATACAAAATTGTGTA	0.358																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18574-18576)cAa>cGa		fibrous sheath interacting protein 2							82.0	77.0	78.0					2																	186672341		1837	4078	5915	SO:0001583	missense	401024							g.chr2:186672341A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18308A>G	2.37:g.186672341A>G	ENSP00000401306:p.Gln6103Arg					FSIP2_ENST00000424728.1_Missense_Mutation_p.Q6103R	p.Q6192R	NM_173651.2	NP_775922.2					17	18575	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18575A>G		.	.	.	.	.	.	.	.	.	.	A	9.703	1.155131	0.21371	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.60171	0.21;0.22	5.26	4.1	0.47936	.	0.365603	0.23660	N	0.045830	T	0.41282	0.1152	N	0.24115	0.695	0.23138	N	0.998235	.	.	.	.	.	.	T	0.23833	-1.0177	8	0.20519	T	0.43	.	7.6892	0.28559	0.906:0.0:0.094:0.0	.	.	.	.	R	6192;6103	ENSP00000344403:Q6192R;ENSP00000401306:Q6103R	ENSP00000344403:Q6192R	Q	+	2	0	FSIP2	186380586	0.980000	0.34600	0.340000	0.25575	0.314000	0.28054	1.462000	0.35266	1.018000	0.39521	0.482000	0.46254	CAA		0.358	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		33	39	0	0	0	1	0	33	39				
WNK2	65268	broad.mit.edu	37	9	96051728	96051728	+	Silent	SNP	C	C	T	rs56047895		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:96051728C>T	ENST00000297954.4	+	20	4803	c.4803C>T	c.(4801-4803)caC>caT	p.H1601H	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.H1176H|WNK2_ENST00000395477.2_Silent_p.H1564H|WNK2_ENST00000349097.3_Silent_p.H1213H|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1601					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCAGGAGCACGTGCCCACCT	0.662																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4801-4803)caC>caT		WNK lysine deficient protein kinase 2							29.0	33.0	32.0					9																	96051728		2203	4300	6503	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051728C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4803C>T	9.37:g.96051728C>T						WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.H1564H|WNK2_ENST00000349097.3_Silent_p.H1213H|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.H1176H	p.H1601H			Q9Y3S1	WNK2_HUMAN			20	4803	+			1601					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.4803C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.419|8.419	0.845999|0.845999	0.16963|0.16963	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.21|5.21	-7.58|-7.58	0.01313|0.01313	.|.	.|.	.|.	.|.	.|.	T|T	0.62624|0.62624	0.2443|0.2443	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67677|0.67677	-0.5609|-0.5609	4|4	.|.	.|.	.|.	.|.	16.1069|16.1069	0.81230|0.81230	0.0:0.4159:0.0:0.5841|0.0:0.4159:0.0:0.5841	rs56047895|rs56047895	.|.	.|.	.|.	C|M	1168|1560;361;87	.|.	.|.	R|T	+|+	1|2	0|0	WNK2|WNK2	95091549|95091549	0.002000|0.002000	0.14202|0.14202	0.712000|0.712000	0.30502|0.30502	0.964000|0.964000	0.63967|0.63967	-1.393000|-1.393000	0.02521|0.02521	-1.472000|-1.472000	0.01883|0.01883	-1.166000|-1.166000	0.01754|0.01754	CGT|ACG		0.662	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		16	22	0	0	0	1	0	16	22				
SLC43A2	124935	broad.mit.edu	37	17	1479909	1479909	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:1479909G>A	ENST00000301335.5	-	13	1618	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	SLC43A2_ENST00000571650.1_Silent_p.L514L|SLC43A2_ENST00000412517.3_Silent_p.L373L|SLC43A2_ENST00000382147.4_Silent_p.L514L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	510					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGTCTCCCTGGAGAGGACCCA	0.657																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1540-1542)ctC>ctT		solute carrier family 43 (amino acid system L transporter), member 2							34.0	36.0	35.0					17																	1479909		2203	4299	6502	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1479909G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1530C>T	17.37:g.1479909G>A						SLC43A2_ENST00000412517.3_Silent_p.L373L|SLC43A2_ENST00000382147.4_Silent_p.L514L|SLC43A2_ENST00000301335.4_Silent_p.L510L	p.L514L			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	14	1848	-			510					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.1542C>T	CCDS11006.1																																																																																				0.657	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		8	11	0	0	0	1	0	8	11				
NASP	4678	broad.mit.edu	37	1	46079780	46079780	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:46079780A>C	ENST00000350030.3	+	8	1606	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	NASP_ENST00000402363.3_Missense_Mutation_p.N509H|NASP_ENST00000351223.3_Missense_Mutation_p.N168H|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.N141H|NASP_ENST00000537798.1_Missense_Mutation_p.N443H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	507	Glu-rich (acidic).|Histone-binding.				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCTTCAAGAAAATGAGGAGGA	0.338																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1519-1521)Aat>Cat		nuclear autoantigenic sperm protein (histone-binding)							83.0	89.0	87.0					1																	46079780		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46079780A>C	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1519A>C	1.37:g.46079780A>C	ENSP00000255120:p.Asn507His					NASP_ENST00000372052.4_Missense_Mutation_p.N141H|NASP_ENST00000537798.1_Missense_Mutation_p.N443H|NASP_ENST00000402363.3_Missense_Mutation_p.N509H|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.N168H	p.N507H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			8	1606	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		507			Glu-rich (acidic).|Histone-binding.		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1519A>C	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.23|13.23	2.176110|2.176110	0.38413|0.38413	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000525515;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|D;D;D;D;D;D;D;D	.|0.95377	.|-3.69;-3.69;-3.56;-3.56;-3.69;-3.56;-3.69;-3.69	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.275088	.|0.45867	.|D	.|0.000324	D|D	0.95787|0.95787	0.8629|0.8629	L|L	0.34521|0.34521	1.04|1.04	0.25749|0.25749	N|N	0.98508|0.98508	.|D;D;D;D	.|0.67145	.|0.996;0.991;0.994;0.996	.|D;P;P;D	.|0.63877	.|0.919;0.77;0.832;0.919	D|D	0.91518|0.91518	0.5232|0.5232	5|10	.|0.87932	.|D	.|0	-3.582|-3.582	16.3123|16.3123	0.82883|0.82883	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|443;168;507;509	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	N|H	31|168;152;443;509;407;104;507;141;168	.|ENSP00000400792:N168H;ENSP00000436939:N152H;ENSP00000438871:N443H;ENSP00000384529:N509H;ENSP00000432289:N104H;ENSP00000255120:N507H;ENSP00000361122:N141H;ENSP00000255121:N168H	.|ENSP00000345532:N407H	K|N	+|+	3|1	2|0	NASP|NASP	45852367|45852367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.011000|0.011000	0.07611|0.07611	4.276000|4.276000	0.58933|0.58933	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.338	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		26	36	0	0	0	1	0	26	36				
TMEM67	91147	broad.mit.edu	37	8	94828673	94828673	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94828673T>C	ENST00000453321.3	+	28	3039	c.2981T>C	c.(2980-2982)tTg>tCg	p.L994S	TMEM67_ENST00000409623.3_Missense_Mutation_p.L913S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	994					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAAGATTTTTGATTTAACTT	0.274																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(2980-2982)tTg>tCg		transmembrane protein 67							41.0	49.0	46.0					8																	94828673		2197	4275	6472	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94828673T>C	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2981T>C	8.37:g.94828673T>C	ENSP00000389998:p.Leu994Ser					TMEM67_ENST00000409623.3_Missense_Mutation_p.L913S	p.L994S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		28	3039	+	Breast(36;4.14e-07)		994					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2981T>C	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241323	0.79912	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.98437	-4.93;-4.93	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.98931	0.9637	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99787	1.1030	10	0.87932	D	0	-3.5031	14.3265	0.66523	0.0:0.0:0.0:1.0	.	994;913	Q5HYA8;G5E9H2	MKS3_HUMAN;.	S	994;913	ENSP00000389998:L994S;ENSP00000386966:L913S	ENSP00000314488:L984S	L	+	2	0	TMEM67	94897849	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.709000	0.74665	2.121000	0.65114	0.482000	0.46254	TTG		0.274	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		26	45	0	0	0	1	0	26	45				
BEND2	139105	broad.mit.edu	37	X	18189127	18189127	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chrX:18189127G>A	ENST00000380033.4	-	13	2311	c.2179C>T	c.(2179-2181)Ctc>Ttc	p.L727F	BEND2_ENST00000380030.3_Missense_Mutation_p.L636F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	727	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAACCTCGGAGAGCACTAATC	0.398																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2179-2181)Ctc>Ttc		BEN domain containing 2							169.0	151.0	157.0					X																	18189127		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18189127G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2179C>T	X.37:g.18189127G>A	ENSP00000369372:p.Leu727Phe					BEND2_ENST00000380030.3_Missense_Mutation_p.L636F	p.L727F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			13	2311	-			727			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2179C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099044	0.37048	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.51817	0.69;0.69	5.49	2.65	0.31530	BEN domain (2);	0.000000	0.64402	D	0.000020	T	0.55737	0.1939	M	0.66939	2.045	0.35820	D	0.824557	D;D	0.65815	0.995;0.995	P;P	0.60345	0.873;0.788	T	0.61357	-0.7079	10	0.72032	D	0.01	-5.5526	4.0592	0.09831	0.1788:0.0:0.491:0.3302	.	636;727	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	F	727;636	ENSP00000369372:L727F;ENSP00000369369:L636F	ENSP00000369369:L636F	L	-	1	0	BEND2	18099048	1.000000	0.71417	0.874000	0.34290	0.144000	0.21451	2.010000	0.40913	0.109000	0.17891	-0.255000	0.11280	CTC		0.398	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		79	19	0	0	0	1	0	79	19				
ACTB	60	broad.mit.edu	37	7	5569271	5569271	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:5569271G>A	ENST00000331789.5	-	2	209	c.18C>T	c.(16-18)gcC>gcT	p.A6A	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	6					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGACGAGCGCGGCGATATCAT	0.716																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(16-18)gcC>gcT		actin, beta							19.0	23.0	22.0					7																	5569271		2171	4228	6399	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5569271G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.18C>T	7.37:g.5569271G>A							p.A6A	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	2	209	-		Ovarian(82;0.0606)	6					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.18C>T	CCDS5341.1																																																																																				0.716	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		17	30	0	0	0	1	0	17	30				
IKBKAP	8518	broad.mit.edu	37	9	111631431	111631431	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:111631431G>A	ENST00000374647.5	-	37	4270	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	IKBKAP_ENST00000537196.1_Silent_p.N972N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1321					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGTTCTTCTGTTGATCTTTG	0.473																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3961-3963)aaC>aaT		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							190.0	173.0	179.0					9																	111631431		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111631431G>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3963C>T	9.37:g.111631431G>A						IKBKAP_ENST00000537196.1_Silent_p.N972N	p.N1321N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			37	4270	-			1321					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.3963C>T	CCDS6773.1																																																																																				0.473	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			42	47	0	0	0	1	0	42	47				
LMTK3	114783	broad.mit.edu	37	19	49004336	49004336	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:49004336G>A	ENST00000600059.1	-	10	1295	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	LMTK3_ENST00000270238.3_Silent_p.D385D			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGACCTCCTCGTCTGACAGGT	0.662																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(1066-1068)gaC>gaT		lemur tyrosine kinase 3							16.0	23.0	21.0					19																	49004336		1948	4122	6070	SO:0001819	synonymous_variant	114783							g.chr19:49004336G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1068C>T	19.37:g.49004336G>A						LMTK3_ENST00000270238.3_Silent_p.D385D	p.D356D						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	10	1295	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.1068C>T																																																																																					0.662	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		3	3	0	0	0	1	0	3	3				
LOC101927209	101927209	broad.mit.edu	37	1	142713494	142713494	+	lincRNA	SNP	G	G	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:142713494G>T	ENST00000610091.1	-	0	2164																											CAAGTTTTAGGTTTCTTTCTG	0.353																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713494G>T																													1.37:g.142713494G>T														0	1111	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.353	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			10	80	1	0	1.49906e-05	1	1.52934e-05	10	80				
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537																																						ENST00000295802.4																			1	Substitution - Missense(1)	p.S492F(1)	endometrium(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1474-1476)tCc>tTc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)	G	PHE/SER	0,4406		0,0,2203	98.0	106.0	104.0		1475	5.1	0.4	2	dbSNP_134	104	4,8596	3.0+/-9.4	0,4,4296	yes	missense	RETSAT	NM_017750.3	155	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	492/611	85571180	4,13002	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571180G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1475C>T	2.37:g.85571180G>A	ENSP00000295802:p.Ser492Phe					RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron	p.S492F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			9	1587	-			492					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1475C>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.928287|2.928287	0.52759|0.52759	0.0|0.0	4.65E-4|4.65E-4	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.23552	.|1.9;1.9	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.852245	.|0.10867	.|N	.|0.625371	T|T	0.36303|0.36303	0.0962|0.0962	M|M	0.65975|0.65975	2.015|2.015	0.35609|0.35609	D|D	0.808519|0.808519	.|P;P;P	.|0.48089	.|0.905;0.905;0.748	.|P;P;B	.|0.46585	.|0.521;0.521;0.243	T|T	0.45760|0.45760	-0.9239|-0.9239	5|10	.|0.56958	.|D	.|0.05	-8.7214|-8.7214	12.225|12.225	0.54455|0.54455	0.0:0.1718:0.8282:0.0|0.0:0.1718:0.8282:0.0	.|.	.|431;431;492	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|F	281|492;431	.|ENSP00000295802:S492F;ENSP00000405040:S431F	.|ENSP00000295802:S492F	P|S	-|-	1|2	0|0	RETSAT|RETSAT	85424691|85424691	0.967000|0.967000	0.33354|0.33354	0.392000|0.392000	0.26245|0.26245	0.722000|0.722000	0.41435|0.41435	3.004000|3.004000	0.49513|0.49513	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.537	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		29	71	0	0	0	1	0	29	71				
MPI	4351	broad.mit.edu	37	15	75189523	75189523	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:75189523A>G	ENST00000352410.4	+	7	1083	c.1016A>G	c.(1015-1017)gAc>gGc	p.D339G	CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Missense_Mutation_p.D278G|MPI_ENST00000535694.1_Missense_Mutation_p.D289G|MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D319G			P34949	MPI_HUMAN	mannose phosphate isomerase	339					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCAATCTATGACCCCCCTGTA	0.532																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1015-1017)gAc>gGc		mannose phosphate isomerase							115.0	108.0	110.0					15																	75189523		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75189523A>G		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1016A>G	15.37:g.75189523A>G	ENSP00000318318:p.Asp339Gly					MPI_ENST00000535694.1_Missense_Mutation_p.D289G|MPI_ENST00000323744.6_Missense_Mutation_p.D278G|MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D319G	p.D339G			P34949	MPI_HUMAN			7	1083	+			339					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.1016A>G	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827015	0.50739	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000323744	D;D;D	0.96745	-3.77;-3.77;-4.11	5.11	2.67	0.31697	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.294703	0.41396	D	0.000894	D	0.95990	0.8694	M	0.88377	2.95	0.80722	D	1	B;B	0.28055	0.016;0.199	B;B	0.32583	0.062;0.148	D	0.92396	0.5925	10	0.34782	T	0.22	.	11.1659	0.48543	0.7059:0.2941:0.0:0.0	.	278;339	P34949-2;P34949	.;MPI_HUMAN	G	339;289;278	ENSP00000318318:D339G;ENSP00000440447:D289G;ENSP00000318192:D278G	ENSP00000318192:D278G	D	+	2	0	MPI	72976576	1.000000	0.71417	0.872000	0.34217	0.888000	0.51559	6.072000	0.71238	0.252000	0.21531	0.254000	0.18369	GAC		0.532	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	129	0	0	0	1	0	4	129				
KIF7	374654	broad.mit.edu	37	15	90171708	90171708	+	Missense_Mutation	SNP	C	C	T	rs73477443		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:90171708C>T	ENST00000394412.3	-	19	4050	c.3974G>A	c.(3973-3975)cGg>cAg	p.R1325Q	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1325					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTTCCCGCCGGGGCTTGGA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15326	0.0		0.0	False		,,,				2504	0.0					ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(3973-3975)cGg>cAg		kinesin family member 7							35.0	43.0	40.0					15																	90171708		2198	4287	6485	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90171708C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3974G>A	15.37:g.90171708C>T	ENSP00000377934:p.Arg1325Gln					KIF7_ENST00000558928.1_Intron	p.R1325Q	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		19	4050	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1325					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3974G>A	CCDS32325.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.4	4.139195	0.77775	.	.	ENSG00000166813	ENST00000394412	T	0.77877	-1.13	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	L	0.32530	0.975	0.54753	D	0.99998	P;D	0.89917	0.941;1.0	P;D	0.79108	0.572;0.992	D	0.84890	0.0836	10	0.66056	D	0.02	.	19.5768	0.95447	0.0:1.0:0.0:0.0	.	811;1325	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	1325	ENSP00000377934:R1325Q	ENSP00000377934:R1325Q	R	-	2	0	KIF7	87972712	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.610000	0.74178	2.635000	0.89317	0.462000	0.41574	CGG		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		36	49	0	0	0	1	0	36	49				
BCAR3	8412	broad.mit.edu	37	1	94140190	94140190	+	Silent	SNP	G	G	A	rs376407020		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:94140190G>A	ENST00000370244.1	-	4	585	c.297C>T	c.(295-297)caC>caT	p.H99H	BCAR3_ENST00000370243.1_Silent_p.H99H|BCAR3_ENST00000260502.6_Silent_p.H99H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	99					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTTTCGCCGTGCCGGTCCT	0.527																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(295-297)caC>caT		breast cancer anti-estrogen resistance 3		G		1,4405	2.1+/-5.4	0,1,2202	46.0	48.0	47.0		297	-3.7	0.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCAR3	NM_003567.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		99/826	94140190	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94140190G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.297C>T	1.37:g.94140190G>A						BCAR3_ENST00000370243.1_Silent_p.H99H|BCAR3_ENST00000260502.6_Silent_p.H99H	p.H99H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	4	585	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	99					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.297C>T	CCDS745.1																																																																																				0.527	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			10	26	0	0	0	1	0	10	26				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	15	0	0	0	1	0	3	15				
OR10G4	390264	broad.mit.edu	37	11	123886380	123886380	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:123886380C>T	ENST00000320891.4	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGTGGTTTACGTGCTCACTG	0.567																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(97-99)taC>taT		olfactory receptor, family 10, subfamily G, member 4							133.0	92.0	106.0					11																	123886380		2202	4296	6498	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886380C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.99C>T	11.37:g.123886380C>T							p.Y33Y	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	99	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	33					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.99C>T	CCDS31702.1																																																																																				0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		53	19	0	0	0	1	0	53	19				
LIN52	91750	broad.mit.edu	37	14	74665639	74665639	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr14:74665639C>T	ENST00000555028.1	+	6	477	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)				breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AGAGATGACACGGGGGAAATT	0.438																																						ENST00000555028.1																			0				breast(1)|endometrium(2)|lung(2)	5						c.(310-312)Cgg>Tgg		lin-52 homolog (C. elegans)							90.0	89.0	89.0					14																	74665639		2203	4300	6503	SO:0001583	missense	91750							g.chr14:74665639C>T	AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.310C>T	14.37:g.74665639C>T	ENSP00000451812:p.Arg104Trp						p.R104W	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)	6	477	+			104						Missense_Mutation	SNP	ENST00000555028.1	37	c.310C>T	CCDS32120.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530491	0.64860	.	.	ENSG00000205659	ENST00000555028;ENST00000381098;ENST00000554938	.	.	.	5.9	1.93	0.25924	.	0.140991	0.45126	N	0.000381	T	0.76435	0.3987	M	0.79805	2.47	0.51012	D	0.999905	D	0.89917	1.0	D	0.78314	0.991	T	0.75505	-0.3294	9	0.87932	D	0	-4.7269	9.8429	0.41010	0.3664:0.571:0.0:0.0626	.	104	Q52LA3	LIN52_HUMAN	W	136;104;82	.	ENSP00000370488:R104W	R	+	1	2	LIN52	73735392	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.682000	0.46934	0.079000	0.16929	-0.145000	0.13849	CGG		0.438	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412316.2			21	9	0	0	0	1	0	21	9				
C10orf105	414152	broad.mit.edu	37	10	73472485	73472485	+	3'UTR	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:73472485T>C	ENST00000441508.2	-	0	3809				C10orf105_ENST00000398786.2_3'UTR|CDH23_ENST00000224721.6_Missense_Mutation_p.V1100A	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GTCCTGGATGTGAATGACAAC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3298-3300)gTg>gCg		cadherin-related 23							56.0	61.0	59.0					10																	73472485		2087	4209	6296	SO:0001624	3_prime_UTR_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73472485T>C	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3208A>G	10.37:g.73472485T>C						C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	p.V1100A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			27	3304	+			1095			Cadherin 10.			Missense_Mutation	SNP	ENST00000441508.2	37	c.3299T>C	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004246	0.54254	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000224721;ENST00000442677	.	.	.	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000007	T	0.55000	0.1893	L	0.48642	1.525	0.80722	D	1	B;B	0.18863	0.031;0.027	B;B	0.21546	0.035;0.01	T	0.50808	-0.8784	9	0.19590	T	0.45	.	14.5682	0.68194	0.0:0.0:0.0:1.0	.	1095;1095	Q6P152;Q9H251	.;CAD23_HUMAN	A	1100;1095;1095;1098;612	.	ENSP00000224721:V1100A	V	+	2	0	CDH23	73142491	1.000000	0.71417	0.428000	0.26697	0.377000	0.30045	6.271000	0.72569	1.824000	0.53156	0.460000	0.39030	GTG		0.597	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		14	18	0	0	0	1	0	14	18				
LILRA1	11024	broad.mit.edu	37	19	55107774	55107774	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:55107774C>T	ENST00000251372.3	+	7	1261	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	360	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.A360V(1)|p.A360E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGACCAAGGCGGGAGCAGCT	0.587																																						ENST00000251372.3																			2	Substitution - Missense(2)	p.A360V(1)|p.A360E(1)	lung(1)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(1078-1080)gCg>gTg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							112.0	110.0	111.0					19																	55107774		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107774C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1079C>T	19.37:g.55107774C>T	ENSP00000251372:p.Ala360Val					LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	p.A360V	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1261	+			360			Ig-like C2-type 4.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1079C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519579	0.44866	.	.	ENSG00000104974	ENST00000251372	T	0.00730	5.77	1.62	-0.729	0.11158	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.783991	0.11076	N	0.602416	T	0.00724	0.0024	L	0.28274	0.84	0.09310	N	1	P	0.44139	0.827	B	0.42343	0.384	T	0.49360	-0.8948	10	0.62326	D	0.03	.	3.6261	0.08113	0.3243:0.4909:0.1848:0.0	.	360	O75019	LIRA1_HUMAN	V	360	ENSP00000251372:A360V	ENSP00000251372:A360V	A	+	2	0	LILRA1	59799586	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.891000	0.04135	-0.769000	0.04620	-3.403000	0.00039	GCG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		44	99	0	0	0	1	0	44	99				
THSD7A	221981	broad.mit.edu	37	7	11415434	11415434	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:11415434T>A	ENST00000423059.4	-	28	5212	c.4961A>T	c.(4960-4962)gAt>gTt	p.D1654V	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1654					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGTCGGCATCTCCATCATA	0.408										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4960-4962)gAt>gTt		thrombospondin, type I, domain containing 7A							169.0	170.0	169.0					7																	11415434		1837	4095	5932	SO:0001583	missense	221981					integral to membrane		g.chr7:11415434T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4961A>T	7.37:g.11415434T>A	ENSP00000406482:p.Asp1654Val	HNSCC(18;0.044)				AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.D1654V	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	28	5212	-			1654						Missense_Mutation	SNP	ENST00000423059.4	37	c.4961A>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973726	0.74246	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71461	-0.57	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84866	0.0822	10	0.87932	D	0	.	16.1448	0.81559	0.0:0.0:0.0:1.0	.	1654;1654	Q9UPZ6;C9JL67	THS7A_HUMAN;.	V	1654	ENSP00000406482:D1654V	ENSP00000262042:D1654V	D	-	2	0	THSD7A	11381959	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.698000	0.84413	2.214000	0.71695	0.374000	0.22700	GAT		0.408	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		38	42	0	0	0	1	0	38	42				
IGF2R	3482	broad.mit.edu	37	6	160494482	160494482	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:160494482C>T	ENST00000356956.1	+	34	5076	c.4928C>T	c.(4927-4929)cCg>cTg	p.P1643L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1643					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGGCACACGCCGCTGGCCTGC	0.607																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4927-4929)cCg>cTg		insulin-like growth factor 2 receptor							84.0	75.0	78.0					6																	160494482		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494482C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4928C>T	6.37:g.160494482C>T	ENSP00000349437:p.Pro1643Leu						p.P1643L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	34	5076	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1643					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4928C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728254	0.69074	.	.	ENSG00000197081	ENST00000356956	T	0.02050	4.48	5.15	5.15	0.70609	Mannose-6-phosphate receptor, binding (1);	0.063074	0.64402	D	0.000004	T	0.08447	0.0210	M	0.80183	2.485	0.54753	D	0.999987	D	0.71674	0.998	D	0.63283	0.913	T	0.04373	-1.0956	10	0.59425	D	0.04	-2.4079	18.9797	0.92751	0.0:1.0:0.0:0.0	.	1643	P11717	MPRI_HUMAN	L	1643	ENSP00000349437:P1643L	ENSP00000349437:P1643L	P	+	2	0	IGF2R	160414472	0.060000	0.20803	0.632000	0.29296	0.765000	0.43378	2.812000	0.47994	2.558000	0.86282	0.561000	0.74099	CCG		0.607	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	21	0	0	0	1	0	24	21				
HSD17B1	3292	broad.mit.edu	37	17	40706443	40706443	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:40706443G>A	ENST00000585807.1	+	5	4280	c.560G>A	c.(559-561)gGc>gAc	p.G187D	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G188D	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	187					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	ATCGAGTGCGGCCCAGTGCAC	0.667																																						ENST00000585807.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(559-561)gGc>gAc		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						34.0	29.0	31.0					17																	40706443		2203	4299	6502	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706443G>A		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.560G>A	17.37:g.40706443G>A	ENSP00000466799:p.Gly187Asp					HSD17B1_ENST00000225929.5_Missense_Mutation_p.G188D|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	p.G187D	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	4280	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	187					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.560G>A	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827576	0.90955	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.43	4.43	0.53597	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80719	-0.1257	9	0.87932	D	0	.	12.3989	0.55402	0.0:0.0:1.0:0.0	.	218;187	B3RFR9;P14061	.;DHB1_HUMAN	D	187	.	ENSP00000225929:G187D	G	+	2	0	HSD17B1	37959969	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	5.310000	0.65780	2.313000	0.78055	0.491000	0.48974	GGC		0.667	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		10	9	0	0	0	1	0	10	9				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		7	Substitution - Missense(7)	p.D1399N(5)|p.D1399Y(2)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4195-4197)Gat>Aat		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn					RP1-85F18.6_ENST00000415054.1_RNA	p.D1399N	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			26	5414	+			1399					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		113	16	0	0	0	1	0	113	16				
KIF3C	3797	broad.mit.edu	37	2	26204037	26204037	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:26204037G>A	ENST00000264712.3	-	1	1329	c.750C>T	c.(748-750)agC>agT	p.S250S	KIF3C_ENST00000405914.1_Silent_p.S250S	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCCTCTCGCTGCCAGCCA	0.642																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(748-750)agC>agT		kinesin family member 3C							43.0	45.0	44.0					2																	26204037		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204037G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.750C>T	2.37:g.26204037G>A						KIF3C_ENST00000405914.1_Silent_p.S250S	p.S250S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1329	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		250			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.750C>T	CCDS1719.1																																																																																				0.642	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			18	53	0	0	0	1	0	18	53				
MORC3	23515	broad.mit.edu	37	21	37742037	37742037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:37742037C>T	ENST00000400485.1	+	15	2447	c.2371C>T	c.(2371-2373)Caa>Taa	p.Q791*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	791					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TAGTGCTTTGCAACATGTAAA	0.393																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2371-2373)Caa>Taa		MORC family CW-type zinc finger 3							114.0	106.0	109.0					21																	37742037		1957	4150	6107	SO:0001587	stop_gained	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37742037C>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2371C>T	21.37:g.37742037C>T	ENSP00000383333:p.Gln791*					MORC3_ENST00000487909.1_3'UTR	p.Q791*	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2447	+			791					A8KA92|Q9UEZ2	Nonsense_Mutation	SNP	ENST00000400485.1	37	c.2371C>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743670	0.49151	.	.	ENSG00000159256	ENST00000400485	.	.	.	5.46	5.46	0.80206	.	0.220247	0.38663	N	0.001620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.9379	14.9704	0.71229	0.1433:0.8567:0.0:0.0	.	.	.	.	X	791	.	ENSP00000383333:Q791X	Q	+	1	0	MORC3	36663907	1.000000	0.71417	0.995000	0.50966	0.238000	0.25445	2.361000	0.44160	2.552000	0.86080	0.655000	0.94253	CAA		0.393	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		4	109	0	0	0	1	0	4	109				
COL6A3	1293	broad.mit.edu	37	2	238267677	238267677	+	Splice_Site	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:238267677C>T	ENST00000295550.4	-	20	6861		c.e20+1		COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						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)		AATACACCTACCCTTCTTCCA	0.423																																						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.e20+1		collagen, type VI, alpha 3							261.0	284.0	276.0					2																	238267677		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238267677C>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.6408+1G>A	2.37:g.238267677C>T						COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site		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)	20	6861	-		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)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440024	0.83993	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237932416	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	6.938000	0.75904	2.398000	0.81561	0.655000	0.94253	.		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	106	196	0	0	0	1	0	106	196				
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	lincRNA	SNP	T	T	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCTGCTCTTGGGGGCCCTG	0.706																																						ENST00000453558.1																			0																																																			414778							g.chr6:30227442T>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227442T>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.706	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	35	0	0	0	1	0	3	35				
ADAMTSL1	92949	broad.mit.edu	37	9	18826302	18826302	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:18826302A>G	ENST00000380548.4	+	22	4294	c.3955A>G	c.(3955-3957)Act>Gct	p.T1319A	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.T20A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1319	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCTGAAGTCACTTGGTTCAG	0.488																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3955-3957)Act>Gct		ADAMTS-like 1							32.0	33.0	33.0					9																	18826302		1993	4164	6157	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18826302A>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3955A>G	9.37:g.18826302A>G	ENSP00000369921:p.Thr1319Ala					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.T20A	p.T1319A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	22	4294	+			1319			Ig-like C2-type 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3955A>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477920	0.63849	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541	T;T	0.67698	-0.28;-0.28	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134654	0.49916	D	0.000130	T	0.62196	0.2408	L	0.48642	1.525	0.30409	N	0.779281	P;B	0.46512	0.879;0.055	P;B	0.45639	0.488;0.068	T	0.65051	-0.6262	10	0.38643	T	0.18	.	10.3587	0.43980	0.8536:0.0:0.0:0.1464	.	20;1319	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	A	1319;20;23;23	ENSP00000369921:T1319A;ENSP00000369918:T20A	ENSP00000325584:T23A	T	+	1	0	ADAMTSL1	18816302	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.448000	0.52943	2.036000	0.60181	0.455000	0.32223	ACT		0.488	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			8	10	0	0	0	1	0	8	10				
ZEB2	9839	broad.mit.edu	37	2	145161594	145161594	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:145161594G>A	ENST00000558170.2	-	6	1880	c.696C>T	c.(694-696)taC>taT	p.Y232Y	ZEB2_ENST00000539609.3_Silent_p.Y208Y|ZEB2_ENST00000303660.4_Silent_p.Y232Y|ZEB2_ENST00000409487.3_Silent_p.Y232Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	232					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGTGGCGGTACTTGATGT	0.557																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107	GRCh37	CM052011	ZEB2	M		c.(694-696)taC>taT		zinc finger E-box binding homeobox 2							225.0	210.0	215.0					2																	145161594		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161594G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.696C>T	2.37:g.145161594G>A						ZEB2_ENST00000303660.4_Silent_p.Y232Y|ZEB2_ENST00000539609.3_Silent_p.Y208Y|ZEB2_ENST00000409487.3_Silent_p.Y232Y	p.Y232Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1880	-			232					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.696C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	5.252	0.231985	0.09969	.	.	ENSG00000169554	ENST00000419938	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.76528	0.4000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74627	-0.3602	4	.	.	.	-10.4131	19.7329	0.96190	0.0:0.0:1.0:0.0	.	.	.	.	I	121	.	.	T	-	2	0	ZEB2	144878064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.663000	0.90544	0.655000	0.94253	ACC		0.557	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		4	102	0	0	0	1	0	4	102				
RBM12B	389677	broad.mit.edu	37	8	94747263	94747263	+	Missense_Mutation	SNP	C	C	T	rs373893335		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94747263C>T	ENST00000399300.2	-	3	1589	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R459H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	459	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGGTTTAAACGTTCAGCTTT	0.393																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1375-1377)cGt>cAt		RNA binding motif protein 12B		C	HIS/ARG	1,3745		0,1,1872	147.0	139.0	142.0		1376	4.3	1.0	8		142	0,8212		0,0,4106	no	missense	RBM12B	NM_203390.2	29	0,1,5978	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging	459/1002	94747263	1,11957	1873	4106	5979	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747263C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1376G>A	8.37:g.94747263C>T	ENSP00000382239:p.Arg459His					RBM12B_ENST00000517700.1_Missense_Mutation_p.R459H|RBM12B_ENST00000520961.1_Intron	p.R459H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1589	-	Breast(36;4.14e-07)		459			RRM 3.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1376G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679598	0.47886	2.67E-4	0.0	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06294	3.32;3.32	5.22	4.28	0.50868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.441828	0.22331	N	0.061475	T	0.10895	0.0266	L	0.35723	1.085	0.25839	N	0.984077	D	0.76494	0.999	P	0.57620	0.824	T	0.10314	-1.0635	10	0.34782	T	0.22	-7.3542	9.6067	0.39637	0.0:0.7693:0.1462:0.0845	.	459	Q8IXT5	RB12B_HUMAN	H	459	ENSP00000382239:R459H;ENSP00000427729:R459H	ENSP00000382239:R459H	R	-	2	0	RBM12B	94816439	0.944000	0.32072	1.000000	0.80357	0.998000	0.95712	1.015000	0.29963	2.584000	0.87258	0.591000	0.81541	CGT		0.393	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		64	105	0	0	0	1	0	64	105				
STAG3	10734	broad.mit.edu	37	7	99787121	99787121	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:99787121C>A	ENST00000426455.1	+	8	1176	c.769C>A	c.(769-771)Caa>Aaa	p.Q257K	STAG3_ENST00000394018.2_Missense_Mutation_p.Q199K|STAG3_ENST00000317296.5_Missense_Mutation_p.Q257K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	257					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTGTGCACCAAGATAACAA	0.483																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(769-771)Caa>Aaa		stromal antigen 3							144.0	149.0	147.0					7																	99787121		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99787121C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.769C>A	7.37:g.99787121C>A	ENSP00000400359:p.Gln257Lys					STAG3_ENST00000394018.2_Missense_Mutation_p.Q199K|STAG3_ENST00000317296.5_Missense_Mutation_p.Q257K	p.Q257K			Q9UJ98	STAG3_HUMAN			8	1176	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		257					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.769C>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.688490	0.29962	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.38240	1.15;1.15;1.15	5.23	4.09	0.47781	STAG (1);	0.285098	0.24896	N	0.034726	T	0.16642	0.0400	N	0.03608	-0.345	0.21675	N	0.999599	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.15378	-1.0439	10	0.38643	T	0.18	-4.4945	9.6411	0.39839	0.6365:0.3635:0.0:0.0	.	199;257	B4DZ10;Q9UJ98	.;STAG3_HUMAN	K	257;199;215;257	ENSP00000400359:Q257K;ENSP00000377586:Q199K;ENSP00000319318:Q257K	ENSP00000319318:Q257K	Q	+	1	0	STAG3	99625057	0.006000	0.16342	1.000000	0.80357	0.918000	0.54935	0.869000	0.27996	1.006000	0.39211	-0.271000	0.10264	CAA		0.483	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		5	161	1	0	0.000602214	1	0.000608237	5	161				
AMER2	219287	broad.mit.edu	37	13	25743839	25743839	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr13:25743839G>A	ENST00000515384.1	-	1	2586	c.1919C>T	c.(1918-1920)cCg>cTg	p.P640L	AMER2_ENST00000381853.3_Missense_Mutation_p.P521L|AMER2_ENST00000357816.2_Missense_Mutation_p.P521L			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	640					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TTTGGAAACCGGGATTTTTGT	0.557																																						ENST00000357816.2																			0											c.(1561-1563)cCg>cTg		APC membrane recruitment protein 2							90.0	91.0	91.0					13																	25743839		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25743839G>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1919C>T	13.37:g.25743839G>A	ENSP00000426528:p.Pro640Leu					AMER2_ENST00000381853.3_Missense_Mutation_p.P521L|AMER2_ENST00000515384.1_Missense_Mutation_p.P640L	p.P521L							3	2037	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1562C>T	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872200	0.91587	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.67171	-0.12;-0.12;-0.25	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75941	-0.3140	10	0.62326	D	0.03	-8.5439	19.4161	0.94700	0.0:0.0:1.0:0.0	.	640;521	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	L	521;521;640	ENSP00000350469:P521L;ENSP00000371277:P521L;ENSP00000426528:P640L	ENSP00000350469:P521L	P	-	2	0	FAM123A	24641839	1.000000	0.71417	0.975000	0.42487	0.999000	0.98932	7.290000	0.78711	2.837000	0.97791	0.655000	0.94253	CCG		0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		36	61	0	0	0	1	0	36	61				
NCAPD2	9918	broad.mit.edu	37	12	6624076	6624076	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:6624076T>C	ENST00000315579.5	+	9	1776	c.977T>C	c.(976-978)cTg>cCg	p.L326P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L281P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	326	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTAGATCACCTGGATGGAGAA	0.478																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(976-978)cTg>cCg		non-SMC condensin I complex, subunit D2							123.0	101.0	108.0					12																	6624076		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6624076T>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.977T>C	12.37:g.6624076T>C	ENSP00000325017:p.Leu326Pro					NCAPD2_ENST00000545962.1_Missense_Mutation_p.L281P	p.L326P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			9	1776	+			326			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.977T>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418566	0.83559	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.25085	1.82;1.82;1.82	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.51466	0.1676	M	0.89534	3.04	0.80722	D	1	D;P;P	0.56968	0.978;0.951;0.936	P;P;P	0.53490	0.727;0.701;0.538	T	0.63024	-0.6729	10	0.62326	D	0.03	-13.8836	15.87	0.79108	0.0:0.0:0.0:1.0	.	281;287;326	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	P	326;198;281;198	ENSP00000325017:L326P;ENSP00000371895:L198P;ENSP00000444417:L281P	ENSP00000325017:L326P	L	+	2	0	NCAPD2	6494337	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.128000	0.77217	2.145000	0.66743	0.533000	0.62120	CTG		0.478	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		24	46	0	0	0	1	0	24	46				
UNC119	9094	broad.mit.edu	37	17	26874807	26874807	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26874807G>C	ENST00000335765.4	-	4	608	c.498C>G	c.(496-498)taC>taG	p.Y166*	UNC119_ENST00000301032.4_Nonsense_Mutation_p.Y166*|UNC119_ENST00000470125.1_Nonsense_Mutation_p.Y71*|UNC119_ENST00000484980.1_Nonsense_Mutation_p.Y71*	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	166	Required for centrosome localization.				cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGTTGCGGAAGTAGTGCCTCT	0.527											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(211-213)taC>taG		unc-119 homolog (C. elegans)							176.0	158.0	164.0					17																	26874807		2203	4300	6503	SO:0001587	stop_gained	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874807G>C	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.498C>G	17.37:g.26874807G>C	ENSP00000337040:p.Tyr166*		OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	UNC119_ENST00000335765.4_Nonsense_Mutation_p.Y166*|UNC119_ENST00000470125.1_Nonsense_Mutation_p.Y71*|UNC119_ENST00000301032.4_Nonsense_Mutation_p.Y166*	p.Y71*			Q13432	U119A_HUMAN			3	3374	-	Lung NSC(42;0.00431)		166					A8K8G4|F1T095|O95126	Nonsense_Mutation	SNP	ENST00000335765.4	37	c.213C>G	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254549	0.80135	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.8659	10.4698	0.44629	0.1439:0.0:0.8561:0.0	.	.	.	.	X	166;166;159	.	ENSP00000301032:Y166X	Y	-	3	2	UNC119	23898934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.544000	0.45761	2.757000	0.94681	0.462000	0.41574	TAC		0.527	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			45	86	0	0	0	1	0	45	86				
KIAA0556	23247	broad.mit.edu	37	16	27789277	27789277	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr16:27789277C>T	ENST00000261588.4	+	27	4807	c.4788C>T	c.(4786-4788)agC>agT	p.S1596S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1596						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGAAGCAGAGCGTTGTTGACC	0.517																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4786-4788)agC>agT		KIAA0556							134.0	114.0	121.0					16																	27789277		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27789277C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4788C>T	16.37:g.27789277C>T							p.S1596S	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			27	4807	+			1596					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4788C>T	CCDS32415.1																																																																																				0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		37	52	0	0	0	1	0	37	52				
FAM83G	644815	broad.mit.edu	37	17	18881637	18881637	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:18881637T>G	ENST00000388995.6	-	5	1565	c.1342A>C	c.(1342-1344)Aag>Cag	p.K448Q	FAM83G_ENST00000345041.4_Missense_Mutation_p.K448Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.K448Q|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	448					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCACGGATCTTGATGCGGTTC	0.647																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1342-1344)Aag>Cag		family with sequence similarity 83, member G							20.0	24.0	23.0					17																	18881637		2124	4230	6354	SO:0001583	missense	644815							g.chr17:18881637T>G	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1342A>C	17.37:g.18881637T>G	ENSP00000373647:p.Lys448Gln					FAM83G_ENST00000585154.2_Missense_Mutation_p.K448Q|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.K448Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron	p.K448Q			A6ND36	FA83G_HUMAN			5	1565	-			448					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1342A>C	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995568	0.54147	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15834	2.39;2.39	5.72	5.72	0.89469	.	0.182518	0.47093	D	0.000243	T	0.23330	0.0564	L	0.56769	1.78	0.38835	D	0.955948	D	0.56035	0.974	P	0.45310	0.476	T	0.04360	-1.0957	10	0.29301	T	0.29	-40.2646	16.0157	0.80439	0.0:0.0:0.0:1.0	.	448	A6ND36	FA83G_HUMAN	Q	448	ENSP00000373647:K448Q;ENSP00000343279:K448Q	ENSP00000343279:K448Q	K	-	1	0	FAM83G	18822362	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.469000	0.53093	2.189000	0.69895	0.533000	0.62120	AAG		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			5	6	0	0	0	1	0	5	6				
SEMA5A	9037	broad.mit.edu	37	5	9044681	9044681	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:9044681T>C	ENST00000382496.5	-	22	3574	c.2909A>G	c.(2908-2910)cAc>cGc	p.H970R	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	970					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCGATCATGTGGAACATGTT	0.522																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2908-2910)cAc>cGc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							81.0	76.0	78.0					5																	9044681		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044681T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2909A>G	5.37:g.9044681T>C	ENSP00000371936:p.His970Arg					CTD-2215L10.1_ENST00000506519.1_RNA	p.H970R	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			22	3574	-			970					D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2909A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207261	0.79127	.	.	ENSG00000112902	ENST00000382496	T	0.35048	1.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	L	0.34521	1.04	0.58432	D	0.999999	D	0.67145	0.996	P	0.61201	0.885	T	0.36212	-0.9757	10	0.48119	T	0.1	.	12.9519	0.58405	0.0:0.0:0.0:1.0	.	970	Q13591	SEM5A_HUMAN	R	970	ENSP00000371936:H970R	ENSP00000371936:H970R	H	-	2	0	SEMA5A	9097681	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.319000	0.79040	1.955000	0.56771	0.460000	0.39030	CAC		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			17	26	0	0	0	1	0	17	26				
FRMD4B	23150	broad.mit.edu	37	3	69242854	69242854	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:69242854G>A	ENST00000398540.3	-	17	1742	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	FRMD4B_ENST00000542259.1_Silent_p.N499N|FRMD4B_ENST00000478263.1_Silent_p.N205N	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	553					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTCGGTATTCGTTTATTGCAT	0.383																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(1495-1497)aaC>aaT		FERM domain containing 4B							165.0	145.0	151.0					3																	69242854		1850	4093	5943	SO:0001819	synonymous_variant	23150					cytoplasm|cytoskeleton	binding	g.chr3:69242854G>A	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1659C>T	3.37:g.69242854G>A						FRMD4B_ENST00000398540.3_Silent_p.N553N|FRMD4B_ENST00000478263.1_Silent_p.N205N	p.N499N			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	18	1948	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	553					Q8TAI3	Silent	SNP	ENST00000398540.3	37	c.1497C>T	CCDS46863.1																																																																																				0.383	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			15	22	0	0	0	1	0	15	22				
SPAST	6683	broad.mit.edu	37	2	32289009	32289009	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:32289009G>C	ENST00000315285.3	+	1	234	c.109G>C	c.(109-111)Ggg>Cgg	p.G37R	SPAST_ENST00000345662.1_Missense_Mutation_p.G37R	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					tcccgccgccgggccggcccc	0.701																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(109-111)Ggg>Cgg		spastin							10.0	11.0	11.0					2																	32289009		2168	4244	6412	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32289009G>C	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.109G>C	2.37:g.32289009G>C	ENSP00000320885:p.Gly37Arg					SPAST_ENST00000345662.1_Missense_Mutation_p.G37R	p.G37R	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			1	234	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		37			Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization.			Missense_Mutation	SNP	ENST00000315285.3	37	c.109G>C	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	g	7.598	0.672105	0.14776	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.93076	-3.12;-3.16	3.72	-1.4	0.08968	.	0.965103	0.08476	N	0.940259	T	0.80539	0.4642	N	0.08118	0	0.21527	N	0.999659	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.66991	-0.5783	10	0.22706	T	0.39	.	1.1836	0.01850	0.2521:0.2921:0.3096:0.1461	.	37;37	E5KRP6;Q9UBP0	.;SPAST_HUMAN	R	37	ENSP00000340817:G37R;ENSP00000320885:G37R	ENSP00000320885:G37R	G	+	1	0	SPAST	32142513	0.916000	0.31088	0.974000	0.42286	0.474000	0.32979	0.853000	0.27777	-0.053000	0.13289	-0.154000	0.13518	GGG		0.701	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		9	7	0	0	0	1	0	9	7				
IBA57	200205	broad.mit.edu	37	1	228362572	228362572	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:228362572C>T	ENST00000366711.3	+	2	523	c.521C>T	c.(520-522)tCg>tTg	p.S174L	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	174					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGGGCTGCATCGCTGCAGGAG	0.701																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(520-522)tCg>tTg		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							19.0	21.0	20.0					1																	228362572		2195	4291	6486	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362572C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.521C>T	1.37:g.228362572C>T	ENSP00000355672:p.Ser174Leu					IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	p.S174L	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			2	523	+			174						Missense_Mutation	SNP	ENST00000366711.3	37	c.521C>T	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508164	0.44660	.	.	ENSG00000181873	ENST00000366711	T	0.74002	-0.8	4.65	0.49	0.16861	Glycine cleavage T-protein, N-terminal (1);	0.539208	0.20613	N	0.088922	T	0.45597	0.1350	N	0.04880	-0.145	0.18873	N	0.999983	B	0.13594	0.008	B	0.15052	0.012	T	0.21895	-1.0232	10	0.25106	T	0.35	-6.9258	4.2882	0.10865	0.1968:0.4568:0.0:0.3464	.	174	Q5T440	CAF17_HUMAN	L	174	ENSP00000355672:S174L	ENSP00000355672:S174L	S	+	2	0	IBA57	226429195	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.584000	0.05800	-0.067000	0.12976	0.655000	0.94253	TCG		0.701	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		12	5	0	0	0	1	0	12	5				
C6orf165	154313	broad.mit.edu	37	6	88138483	88138483	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:88138483A>G	ENST00000507897.1	+	9	1183	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q367R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	367										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAGTGATGCAATGTCATCTT	0.373																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1101)cAa>cGa		chromosome 6 open reading frame 165							149.0	131.0	137.0					6																	88138483		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138483A>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1100A>G	6.37:g.88138483A>G	ENSP00000426769:p.Gln367Arg					C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q367R	p.Q367R			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1183	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	367					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1100A>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	0.373	-0.933008	0.02359	.	.	ENSG00000213204	ENST00000369562	T	0.29917	1.55	5.18	2.73	0.32206	.	0.452167	0.25175	N	0.032563	T	0.08179	0.0204	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35001	-0.9806	10	0.26408	T	0.33	.	4.0697	0.09876	0.668:0.1395:0.0727:0.1198	.	367	Q8IYR0	CF165_HUMAN	R	367	ENSP00000358575:Q367R	ENSP00000358575:Q367R	Q	+	2	0	C6orf165	88195202	0.016000	0.18221	0.004000	0.12327	0.004000	0.04260	2.023000	0.41040	0.264000	0.21851	0.528000	0.53228	CAA		0.373	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		38	45	0	0	0	1	0	38	45				
CNNM4	26504	broad.mit.edu	37	2	97474459	97474459	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:97474459G>A	ENST00000377075.2	+	6	2208	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	CNNM4_ENST00000540067.1_Missense_Mutation_p.V191M	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	704					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCGGGCACTCGTGGACTTGCA	0.557																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(2110-2112)Gtg>Atg		cyclin M4							103.0	86.0	92.0					2																	97474459		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97474459G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2110G>A	2.37:g.97474459G>A	ENSP00000366275:p.Val704Met					CNNM4_ENST00000540067.1_Missense_Mutation_p.V191M	p.V704M	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			6	2208	+			704					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.2110G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960358	0.34565	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.42513	0.97	5.26	4.12	0.48240	RmlC-like jelly roll fold (1);	0.634163	0.16965	N	0.192329	T	0.19046	0.0457	N	0.03608	-0.345	0.24501	N	0.994253	B;B	0.27380	0.177;0.007	B;B	0.17433	0.018;0.004	T	0.11867	-1.0570	10	0.49607	T	0.09	-16.3853	8.2034	0.31438	0.9053:0.0:0.0947:0.0	.	191;704	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	M	704;191	ENSP00000366275:V704M	ENSP00000366275:V704M	V	+	1	0	CNNM4	96838186	0.462000	0.25791	0.736000	0.30914	0.686000	0.39977	2.763000	0.47605	0.858000	0.35431	-0.302000	0.09304	GTG		0.557	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		14	28	0	0	0	1	0	14	28				
TRPV5	56302	broad.mit.edu	37	7	142609710	142609710	+	Missense_Mutation	SNP	C	C	T	rs144202979		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:142609710C>T	ENST00000265310.1	-	13	2074	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	576					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCATCATGGCGATGAACAAG	0.547																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1726-1728)Gcc>Acc		transient receptor potential cation channel, subfamily V, member 5		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	134.0	116.0	122.0		1726	5.6	1.0	7	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TRPV5	NM_019841.4	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	576/730	142609710	3,13003	2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609710C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1726G>A	7.37:g.142609710C>T	ENSP00000265310:p.Ala576Thr						p.A576T	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			13	2074	-	Melanoma(164;0.059)		576					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1726G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615889	0.96649	2.27E-4	2.33E-4	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.99239	-5.61;-5.61	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98413	1.0573	10	0.87932	D	0	-13.4977	18.9258	0.92544	0.0:1.0:0.0:0.0	.	576	Q9NQA5	TRPV5_HUMAN	T	576;521	ENSP00000265310:A576T;ENSP00000406361:A521T	ENSP00000265310:A576T	A	-	1	0	TRPV5	142319832	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.783000	0.85696	2.790000	0.95986	0.650000	0.86243	GCC		0.547	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		29	16	0	0	0	1	0	29	16				
FKBP8	23770	broad.mit.edu	37	19	18649033	18649033	+	Silent	SNP	G	G	A	rs140514472	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:18649033G>A	ENST00000596558.2	-	5	871	c.762C>T	c.(760-762)agC>agT	p.S254S	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Silent_p.S283S|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Silent_p.S255S|FKBP8_ENST00000608443.1_Silent_p.S255S|FKBP8_ENST00000222308.4_Silent_p.S254S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	254					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CACCTTTGGCGCTGGAGGTGA	0.627																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(763-765)agC>agT		FK506 binding protein 8, 38kDa		G		1,4405	2.1+/-5.4	0,1,2202	69.0	64.0	66.0		765	2.8	1.0	19	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FKBP8	NM_012181.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		255/414	18649033	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649033G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.762C>T	19.37:g.18649033G>A						FKBP8_ENST00000222308.3_Silent_p.S255S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Silent_p.S254S|FKBP8_ENST00000453489.2_Silent_p.S283S	p.S255S			Q14318	FKBP8_HUMAN			5	885	-			254					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.765C>T																																																																																					0.627	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		33	52	0	0	0	1	0	33	52				
ZBED9	114821	broad.mit.edu	37	6	28543105	28543105	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:28543105A>G	ENST00000452236.2	-	3	1994	c.1377T>C	c.(1375-1377)atT>atC	p.I459I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCATGGACAATTTTCAATT	0.433																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1375-1377)atT>atC		SCAN domain containing 3							70.0	71.0	70.0					6																	28543105		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543105A>G																												ENST00000452236.2:c.1377T>C	6.37:g.28543105A>G							p.I459I	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1994	-			459			Integrase catalytic.			Silent	SNP	ENST00000452236.2	37	c.1377T>C	CCDS34355.1																																																																																				0.433	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			38	62	0	0	0	1	0	38	62				
SYT15	83849	broad.mit.edu	37	10	46968669	46968669	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:46968669C>T	ENST00000374321.4	-	3	333	c.267G>A	c.(265-267)gtG>gtA	p.V89V	SYT15_ENST00000374323.4_Silent_p.V142V|SYT15_ENST00000503753.1_Silent_p.V89V|SYT15_ENST00000374325.3_Silent_p.V89V|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTGCAGGGGCACCCAATCTC	0.632																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(424-426)gtG>gtA		synaptotagmin XV							56.0	67.0	63.0					10																	46968669		2135	4250	6385	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46968669C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.267G>A	10.37:g.46968669C>T						SYT15_ENST00000374325.3_Silent_p.V89V|SYT15_ENST00000374321.4_Silent_p.V89V|SYT15_ENST00000503753.1_Silent_p.V89V	p.V142V			Q9BQS2	SYT15_HUMAN			2	1013	-			89					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.426G>A	CCDS44376.1																																																																																				0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		8	36	0	0	0	1	0	8	36				
CDKN1B	1027	broad.mit.edu	37	12	12870950	12870950	+	Silent	SNP	G	G	A	rs140927518	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:12870950G>A	ENST00000228872.4	+	1	893	c.177G>A	c.(175-177)aaG>aaA	p.K59K	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Silent_p.K59K	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCCAGCGCAAGTGGAATTTCG	0.577																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(175-177)aaG>aaA		cyclin-dependent kinase inhibitor 1B (p27, Kip1)		G		3,4403	6.2+/-15.9	0,3,2200	89.0	101.0	97.0		177	3.2	1.0	12	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	CDKN1B	NM_004064.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		59/199	12870950	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870950G>A	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.177G>A	12.37:g.12870950G>A						CDKN1B_ENST00000396340.1_Silent_p.K59K|CDKN1B_ENST00000477087.1_Intron	p.K59K	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	893	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	59					Q16307|Q5U0H2|Q9BUS6	Silent	SNP	ENST00000228872.4	37	c.177G>A	CCDS8653.1																																																																																				0.577	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		46	65	0	0	0	1	0	46	65				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			220729							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	236	0	0	0	1	0	6	236				
KIAA0100	9703	broad.mit.edu	37	17	26964012	26964012	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26964012T>A	ENST00000528896.2	-	15	2022	c.1948A>T	c.(1948-1950)Acc>Tcc	p.T650S	KIAA0100_ENST00000544884.1_Missense_Mutation_p.T507S|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.T507S|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	650						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTGATAGGTGATGGAGAGC	0.527																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1948-1950)Acc>Tcc		KIAA0100							106.0	95.0	99.0					17																	26964012		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964012T>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1948A>T	17.37:g.26964012T>A	ENSP00000436773:p.Thr650Ser					KIAA0100_ENST00000544884.1_Missense_Mutation_p.T507S|KIAA0100_ENST00000389003.3_Missense_Mutation_p.T507S	p.T650S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			15	2022	-	Lung NSC(42;0.00431)		650					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1948A>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.535213	0.45176	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22743	1.94;1.94	5.92	4.82	0.62117	FMP27, N-terminal (1);	0.221006	0.48286	N	0.000193	T	0.13841	0.0335	N	0.19112	0.55	0.42171	D	0.991649	B	0.15141	0.012	B	0.17722	0.019	T	0.08371	-1.0725	10	0.19590	T	0.45	.	12.3709	0.55254	0.1264:0.0:0.0:0.8736	.	650	Q14667	K0100_HUMAN	S	650;650;650;507	ENSP00000436773:T650S;ENSP00000446443:T507S	ENSP00000005905:T650S	T	-	1	0	KIAA0100	23988139	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	3.765000	0.55272	1.009000	0.39289	0.533000	0.62120	ACC		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		30	43	0	0	0	1	0	30	43				
KRT37	8688	broad.mit.edu	37	17	39578364	39578364	+	Missense_Mutation	SNP	G	G	A	rs140701476		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:39578364G>A	ENST00000225550.3	-	5	976	c.977C>T	c.(976-978)aCg>aTg	p.T326M	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	326	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGCATTCACCGTGCATCTCAG	0.592																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(976-978)aCg>aTg		keratin 37							162.0	121.0	135.0					17																	39578364		2203	4296	6499	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578364G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.977C>T	17.37:g.39578364G>A	ENSP00000225550:p.Thr326Met					AC003958.2_ENST00000432258.1_RNA	p.T326M	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			5	976	-		Breast(137;0.000496)	326			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.977C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159816	0.38119	.	.	ENSG00000108417	ENST00000225550	D	0.89343	-2.5	4.86	2.77	0.32553	Filament (1);	0.610612	0.14526	N	0.314151	D	0.86944	0.6055	M	0.84948	2.725	0.09310	N	1	P	0.34934	0.476	B	0.25140	0.058	T	0.79514	-0.1772	10	0.87932	D	0	.	7.0562	0.25102	0.0898:0.0:0.7265:0.1837	.	326	O76014	KRT37_HUMAN	M	326	ENSP00000225550:T326M	ENSP00000225550:T326M	T	-	2	0	KRT37	36831890	0.000000	0.05858	0.061000	0.19648	0.915000	0.54546	-0.546000	0.06062	0.392000	0.25172	0.650000	0.86243	ACG		0.592	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		31	38	0	0	0	1	0	31	38				
FOXO3	2309	broad.mit.edu	37	6	108985068	108985068	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:108985068G>A	ENST00000343882.6	+	3	1336	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	FOXO3_ENST00000540898.1_Silent_p.S124S|FOXO3_ENST00000406360.1_Silent_p.S344S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	344					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGCCTCTCTCGCCCATGCTCT	0.582																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1030-1032)tcG>tcA		forkhead box O3							73.0	61.0	65.0					6																	108985068		2203	4300	6503	SO:0001819	synonymous_variant	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985068G>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1032G>A	6.37:g.108985068G>A						FOXO3_ENST00000343882.6_Silent_p.S344S|FOXO3_ENST00000540898.1_Silent_p.S124S	p.S344S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1375	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	344					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	c.1032G>A	CCDS5068.1																																																																																				0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			18	36	0	0	0	1	0	18	36				
ST3GAL6	10402	broad.mit.edu	37	3	98506994	98506994	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:98506994G>A	ENST00000483910.1	+	7	835	c.546G>A	c.(544-546)acG>acA	p.T182T	ST3GAL6_ENST00000265261.6_Silent_p.T64T|ST3GAL6_ENST00000394162.1_Silent_p.T182T|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	182					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACCCTAATACGACAGTGATTC	0.388																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(190-192)acG>acA		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							105.0	99.0	101.0					3																	98506994		2203	4300	6503	SO:0001819	synonymous_variant	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98506994G>A	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.546G>A	3.37:g.98506994G>A						ST3GAL6_ENST00000483910.1_Silent_p.T182T|ST3GAL6_ENST00000394162.1_Silent_p.T182T|ST3GAL6_ENST00000462152.1_3'UTR	p.T64T	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			7	614	+			182					B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	ENST00000483910.1	37	c.192G>A	CCDS2933.1																																																																																				0.388	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		43	143	0	0	0	1	0	43	143				
LRP1B	53353	broad.mit.edu	37	2	141115623	141115623	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:141115623A>G	ENST00000389484.3	-	74	12291	c.11320T>C	c.(11320-11322)Tgc>Cgc	p.C3774R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3774	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11320-11322)Tgc>Cgc		low density lipoprotein receptor-related protein 1B							165.0	153.0	157.0					2																	141115623		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115623A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11320T>C	2.37:g.141115623A>G	ENSP00000374135:p.Cys3774Arg	TSP Lung(27;0.18)					p.C3774R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	74	12291	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3774			LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11320T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034617	0.75617	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.75	5.75	0.90469	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.064305	0.64402	D	0.000005	D	0.99941	0.9974	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95857	0.8880	10	0.87932	D	0	.	16.0605	0.80836	1.0:0.0:0.0:0.0	.	3774	Q9NZR2	LRP1B_HUMAN	R	3774;3712	ENSP00000374135:C3774R	ENSP00000374135:C3774R	C	-	1	0	LRP1B	140832093	1.000000	0.71417	0.579000	0.28588	0.660000	0.38997	8.962000	0.93254	2.193000	0.70182	0.528000	0.53228	TGC		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		46	66	0	0	0	1	0	46	66				
C17orf102	400591	broad.mit.edu	37	17	32906251	32906251	+	Missense_Mutation	SNP	C	C	T	rs377334422		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:32906251C>T	ENST00000357754.1	-	1	137	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	17										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGGCCGGCCCCATTCGGGTC	0.607																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(49-51)Ggg>Agg		chromosome 17 open reading frame 102		C	ARG/GLY	1,3483		0,1,1741	12.0	16.0	14.0		49	-4.8	0.0	17		14	0,7852		0,0,3926	no	missense	C17orf102	NM_207454.2	125	0,1,5667	TT,TC,CC		0.0,0.0287,0.0088	benign	17/168	32906251	1,11335	1742	3926	5668	SO:0001583	missense	400591							g.chr17:32906251C>T		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.49G>A	17.37:g.32906251C>T	ENSP00000350392:p.Gly17Arg						p.G17R	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	137	-			17					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.49G>A	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857989	0.32791	2.87E-4	0.0	ENSG00000197322	ENST00000357754	T	0.46819	0.86	3.62	-4.82	0.03171	.	.	.	.	.	T	0.24586	0.0596	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.21759	-1.0236	9	0.87932	D	0	.	4.5986	0.12341	0.0:0.3038:0.2971:0.3991	.	17	A2RUQ5	CQ102_HUMAN	R	17	ENSP00000350392:G17R	ENSP00000350392:G17R	G	-	1	0	C17orf102	29930364	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.273000	0.08548	-0.955000	0.03636	-0.378000	0.06908	GGG		0.607	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		11	15	0	0	0	1	0	11	15				
ANKRD13C	81573	broad.mit.edu	37	1	70758195	70758195	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:70758195A>G	ENST00000370944.4	-	9	1404	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V329A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	364					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAGTCCATTCACCAGGTAAAA	0.323																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1090-1092)gTg>gCg		ankyrin repeat domain 13C							63.0	64.0	63.0					1																	70758195		2201	4298	6499	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70758195A>G		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1091T>C	1.37:g.70758195A>G	ENSP00000359982:p.Val364Ala					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V329A	p.V364A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			9	1404	-			364					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1091T>C	CCDS648.2	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659099	0.67586	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.40225	1.04;1.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.34521	1.04	0.80722	D	1	P;P	0.50443	0.851;0.935	P;P	0.51016	0.623;0.656	T	0.03394	-1.1041	10	0.23302	T	0.38	.	16.0315	0.80582	1.0:0.0:0.0:0.0	.	329;364	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	A	364;329	ENSP00000359982:V364A;ENSP00000262346:V329A	ENSP00000262346:V329A	V	-	2	0	ANKRD13C	70530783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.237000	0.95368	2.186000	0.69663	0.455000	0.32223	GTG		0.323	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		13	30	0	0	0	1	0	13	30				
ACAN	176	broad.mit.edu	37	15	89383306	89383306	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:89383306G>A	ENST00000561243.1	+	3	518	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ACAN_ENST00000558207.1_Missense_Mutation_p.R173Q|ACAN_ENST00000352105.7_Missense_Mutation_p.R173Q|ACAN_ENST00000559004.1_Missense_Mutation_p.R173Q|ACAN_ENST00000439576.2_Missense_Mutation_p.R173Q			P16112	PGCA_HUMAN	aggrecan	173	G1-B.|Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCAGCGGGCCTGCCTG	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(517-519)cGg>cAg		aggrecan							33.0	32.0	33.0					15																	89383306		2128	4234	6362	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89383306G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.518G>A	15.37:g.89383306G>A	ENSP00000453342:p.Arg173Gln					ACAN_ENST00000559004.1_Missense_Mutation_p.R173Q|ACAN_ENST00000352105.7_Missense_Mutation_p.R173Q|ACAN_ENST00000558207.1_Missense_Mutation_p.R173Q|ACAN_ENST00000561243.1_Missense_Mutation_p.R173Q	p.R173Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		4	892	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		173					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.518G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457753	0.43634	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09163	3.01;3.01	5.79	4.78	0.61160	.	0.000000	0.30293	N	0.009960	T	0.02380	0.0073	N	0.01284	-0.91	0.31787	N	0.630207	P;P;B	0.35684	0.515;0.515;0.087	B;B;B	0.25405	0.06;0.06;0.02	T	0.17868	-1.0355	10	0.19590	T	0.45	-19.5305	4.3158	0.10993	0.2807:0.0:0.7193:0.0	.	173;173;173	E7ENV9;E7EX88;Q6PID9	.;.;.	Q	173	ENSP00000387356:R173Q;ENSP00000341615:R173Q	ENSP00000268134:R173Q	R	+	2	0	ACAN	87184310	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	3.805000	0.55575	2.733000	0.93635	0.655000	0.94253	CGG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	16	0	0	0	1	0	7	16				
SUCLG2	8801	broad.mit.edu	37	3	67568714	67568714	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:67568714C>T	ENST00000307227.5	-	6	644	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SUCLG2_ENST00000493112.1_Missense_Mutation_p.R206Q|SUCLG2_ENST00000492795.1_Missense_Mutation_p.R206Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	206	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCGGCCATCCGCTGAGCTTG	0.393																																						ENST00000307227.5																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10						c.(616-618)cGg>cAg		succinate-CoA ligase, GDP-forming, beta subunit	Succinic acid(DB00139)						116.0	108.0	110.0					3																	67568714		1866	4094	5960	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67568714C>T	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.617G>A	3.37:g.67568714C>T	ENSP00000307432:p.Arg206Gln					SUCLG2_ENST00000492795.1_Missense_Mutation_p.R206Q|SUCLG2_ENST00000493112.1_Missense_Mutation_p.R206Q	p.R206Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	6	644	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	206			ATP-grasp.		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.617G>A	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941284	0.34283	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	T;T;T	0.70869	-0.52;-0.52;-0.52	5.87	5.87	0.94306	ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.049820	0.85682	D	0.000000	T	0.58163	0.2103	L	0.35249	1.045	0.51482	D	0.999921	B;B	0.29936	0.262;0.089	B;B	0.15052	0.012;0.009	T	0.55854	-0.8075	10	0.39692	T	0.17	.	14.1972	0.65679	0.0:0.9232:0.0:0.0768	.	158;206	F5H4S7;Q96I99	.;SUCB2_HUMAN	Q	206;206;158;206	ENSP00000419325:R206Q;ENSP00000307432:R206Q;ENSP00000417589:R206Q	ENSP00000307432:R206Q	R	-	2	0	SUCLG2	67651404	0.938000	0.31826	1.000000	0.80357	0.893000	0.52053	1.314000	0.33597	2.941000	0.99782	0.655000	0.94253	CGG		0.393	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		80	62	0	0	0	1	0	80	62				
SHOC2	8036	broad.mit.edu	37	10	112745399	112745399	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:112745399C>T	ENST00000369452.4	+	3	1062	c.717C>T	c.(715-717)aaC>aaT	p.N239N	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	239					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AATTATGTAACCTCATTACGC	0.328																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(715-717)aaC>aaT		soc-2 suppressor of clear homolog (C. elegans)							73.0	63.0	67.0					10																	112745399		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112745399C>T	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.717C>T	10.37:g.112745399C>T						SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	p.N239N	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	3	1062	+			239					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.717C>T	CCDS7568.1																																																																																				0.328	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		20	40	0	0	0	1	0	20	40				
SLC22A18	5002	broad.mit.edu	37	11	2929473	2929473	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:2929473G>A	ENST00000380574.1	+	3	586	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SLC22A18_ENST00000449793.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R52Q			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	52					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTGTCTCGGAAACTGGGC	0.632																																						ENST00000380574.1																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(154-156)cGg>cAg		solute carrier family 22, member 18							88.0	84.0	86.0					11																	2929473		2202	4298	6500	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2929473G>A	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.155G>A	11.37:g.2929473G>A	ENSP00000369948:p.Arg52Gln					SLC22A18_ENST00000449793.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R52Q	p.R52Q			Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	586	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	52					O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.155G>A	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310281	0.40895	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574;ENST00000485423	T;T;T;T;T	0.80653	0.44;0.44;0.38;0.44;-1.4	4.27	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.710109	0.12638	N	0.451522	T	0.76278	0.3965	M	0.74881	2.28	0.09310	N	1	B;P	0.51449	0.27;0.945	B;B	0.42959	0.018;0.403	T	0.64330	-0.6433	10	0.32370	T	0.25	-24.6477	5.2685	0.15613	0.2017:0.175:0.6233:0.0	.	52;52	E9PRM7;Q96BI1	.;S22AI_HUMAN	Q	52	ENSP00000307859:R52Q;ENSP00000311139:R52Q;ENSP00000392072:R52Q;ENSP00000369948:R52Q;ENSP00000433019:R52Q	ENSP00000311139:R52Q	R	+	2	0	SLC22A18	2886049	0.430000	0.25538	0.114000	0.21550	0.696000	0.40369	2.056000	0.41355	0.368000	0.24481	0.491000	0.48974	CGG		0.632	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		25	28	0	0	0	1	0	25	28				
NSUN6	221078	broad.mit.edu	37	10	18905212	18905212	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:18905212T>A	ENST00000377304.4	-	4	740	c.322A>T	c.(322-324)Aaa>Taa	p.K108*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	108							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTGTTTTTTAATATTCTTT	0.403																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(322-324)Aaa>Taa		NOP2/Sun domain family, member 6							90.0	85.0	87.0					10																	18905212		2203	4300	6503	SO:0001587	stop_gained	221078						methyltransferase activity|RNA binding	g.chr10:18905212T>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.322A>T	10.37:g.18905212T>A	ENSP00000366519:p.Lys108*						p.K108*	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			4	740	-			108					B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	c.322A>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	T	36	5.690155	0.96793	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.48	-2.51	0.06365	.	0.771349	0.12319	N	0.479453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.265	0.20922	0.0:0.2724:0.3514:0.3762	.	.	.	.	X	108	.	ENSP00000366519:K108X	K	-	1	0	NSUN6	18945218	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.270000	0.08584	-0.462000	0.06984	-0.316000	0.08728	AAA		0.403	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		21	23	0	0	0	1	0	21	23				
THSD4	79875	broad.mit.edu	37	15	71953002	71953002	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:71953002G>A	ENST00000355327.3	+	8	1420	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	THSD4_ENST00000261862.6_Missense_Mutation_p.R429H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R69H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	429					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGCTACCACCGCGTCGTGGAG	0.527																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1285-1287)cGc>cAc		thrombospondin, type I, domain containing 4							99.0	106.0	104.0					15																	71953002		1945	4138	6083	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71953002G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1286G>A	15.37:g.71953002G>A	ENSP00000347484:p.Arg429His					THSD4_ENST00000357769.4_Missense_Mutation_p.R69H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R429H	p.R429H			Q6ZMP0	THSD4_HUMAN			8	1420	+			429					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1286G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522361	0.85600	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.51325	0.71;0.71;0.71	4.62	4.62	0.57501	ADAM-TS Spacer 1 (1);	0.061059	0.64402	D	0.000010	T	0.40272	0.1110	N	0.05031	-0.125	0.34660	D	0.722537	D;D;D;D	0.76494	0.999;0.994;0.999;0.998	P;P;P;P	0.62491	0.903;0.708;0.843;0.841	T	0.51980	-0.8636	10	0.36615	T	0.2	.	9.0623	0.36442	0.1014:0.0:0.8986:0.0	.	69;69;429;429	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	H	429;429;69;69	ENSP00000347484:R429H;ENSP00000261862:R429H;ENSP00000350413:R69H	ENSP00000261862:R429H	R	+	2	0	THSD4	69740056	1.000000	0.71417	0.940000	0.37924	0.908000	0.53690	7.320000	0.79064	2.291000	0.77112	0.655000	0.94253	CGC		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		51	64	0	0	0	1	0	51	64				
NELL1	4745	broad.mit.edu	37	11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:20907004T>C	ENST00000357134.5	+	5	673	c.521T>C	c.(520-522)gTg>gCg	p.V174A	NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000298925.5_Missense_Mutation_p.V202A	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(604-606)gTg>gCg		NEL-like 1 (chicken)							130.0	124.0	126.0					11																	20907004		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20907004T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.521T>C	11.37:g.20907004T>C	ENSP00000349654:p.Val174Ala					NELL1_ENST00000357134.5_Missense_Mutation_p.V174A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000325319.5_Missense_Mutation_p.V117A	p.V202A			Q92832	NELL1_HUMAN			6	758	+			174			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.605T>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396481	0.83011	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80738	4.46;4.46;-1.41;4.46	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.068640	0.56097	D	0.000026	D	0.87589	0.6215	L	0.58583	1.82	0.42305	D	0.992191	D;P;P;D	0.61697	0.99;0.951;0.942;0.98	D;P;P;P	0.73380	0.98;0.76;0.72;0.891	D	0.89058	0.3460	10	0.87932	D	0	-13.2529	15.2875	0.73838	0.0:0.0:0.0:1.0	.	117;202;174;174	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	A	202;174;117;174	ENSP00000298925:V202A;ENSP00000349654:V174A;ENSP00000317837:V117A;ENSP00000437170:V174A	ENSP00000298925:V202A	V	+	2	0	NELL1	20863580	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.354000	0.73036	2.082000	0.62665	0.533000	0.62120	GTG		0.433	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		3	24	0	0	0	1	0	3	24				
CAMTA2	23125	broad.mit.edu	37	17	4883249	4883249	+	Silent	SNP	G	G	A	rs370912778		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:4883249G>A	ENST00000348066.3	-	9	1491	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000572543.1_Silent_p.H461H|CAMTA2_ENST00000381311.5_Silent_p.H458H|CAMTA2_ENST00000414043.3_Silent_p.H479H|CAMTA2_ENST00000361571.5_Silent_p.H455H|CAMTA2_ENST00000358183.4_Silent_p.H456H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	456					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggCAGCCCCGTGACCCTTGA	0.617																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1363-1365)caC>caT		calmodulin binding transcription activator 2		C	,,,	1,4403		0,1,2201	55.0	57.0	56.0		1374,1437,1365,1368	0.5	1.0	17		56	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMTA2	NM_001171166.1,NM_001171167.1,NM_001171168.1,NM_015099.3	,,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,,	458/1198,479/1242,455/1202,456/1203	4883249	1,12989	2202	4293	6495	SO:0001819	synonymous_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883249G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1368C>T	17.37:g.4883249G>A						CAMTA2_ENST00000414043.3_Silent_p.H479H|CAMTA2_ENST00000572543.1_Silent_p.H461H|CAMTA2_ENST00000358183.4_Silent_p.H456H|CAMTA2_ENST00000348066.3_Silent_p.H456H|CAMTA2_ENST00000381311.5_Silent_p.H458H	p.H455H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			8	1776	-			456					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	c.1365C>T	CCDS11063.1																																																																																				0.617	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		48	62	0	0	0	1	0	48	62				
CELSR2	1952	broad.mit.edu	37	1	109810668	109810668	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:109810668G>A	ENST00000271332.3	+	17	6365	c.6304G>A	c.(6304-6306)Gtg>Atg	p.V2102M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2102					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACACAGGACGTGCACTTCAC	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6304-6306)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 2							30.0	31.0	31.0					1																	109810668		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810668G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6304G>A	1.37:g.109810668G>A	ENSP00000271332:p.Val2102Met						p.V2102M	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	17	6365	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2102					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6304G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027343	0.75390	.	.	ENSG00000143126	ENST00000271332	T	0.10763	2.84	4.54	4.54	0.55810	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.21468	0.0517	M	0.63843	1.955	0.46954	D	0.999267	D	0.89917	1.0	D	0.74348	0.983	T	0.00986	-1.1490	9	0.40728	T	0.16	.	17.4651	0.87630	0.0:0.0:1.0:0.0	.	2102	Q9HCU4	CELR2_HUMAN	M	2102	ENSP00000271332:V2102M	ENSP00000271332:V2102M	V	+	1	0	CELSR2	109612191	1.000000	0.71417	0.989000	0.46669	0.939000	0.58152	7.355000	0.79434	2.349000	0.79799	0.591000	0.81541	GTG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		16	35	0	0	0	1	0	16	35				
ARAP2	116984	broad.mit.edu	37	4	36126568	36126568	+	Missense_Mutation	SNP	C	C	A	rs144280242	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr4:36126568C>A	ENST00000303965.4	-	22	4151	c.3662G>T	c.(3661-3663)aGa>aTa	p.R1221I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1221	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTTTAATTCTTTCCTTGTC	0.358													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18885	0.0		0.002	False		,,,				2504	0.0					ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3661-3663)aGa>aTa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2		C	ILE/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	145.0	144.0		3662	5.4	1.0	4	dbSNP_134	144	26,8574	18.5+/-59.3	0,26,4274	yes	missense	ARAP2	NM_015230.3	97	0,27,6476	AA,AC,CC		0.3023,0.0227,0.2076	probably-damaging	1221/1705	36126568	27,12979	2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36126568C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3662G>T	4.37:g.36126568C>A	ENSP00000302895:p.Arg1221Ile						p.R1221I	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			22	4151	-			1221			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3662G>T	CCDS3441.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	26.1	4.701309	0.88924	2.27E-4	0.003023	ENSG00000047365	ENST00000303965	T	0.22134	1.97	5.42	5.42	0.78866	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.056769	0.64402	D	0.000003	T	0.54303	0.1850	M	0.90977	3.165	0.58432	D	0.999997	D	0.55385	0.971	P	0.60012	0.867	T	0.65475	-0.6159	10	0.87932	D	0	.	19.2209	0.93796	0.0:1.0:0.0:0.0	.	1221	Q8WZ64	ARAP2_HUMAN	I	1221	ENSP00000302895:R1221I	ENSP00000302895:R1221I	R	-	2	0	ARAP2	35802963	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.101000	0.64566	2.546000	0.85860	0.585000	0.79938	AGA		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		30	52	1	0	8.4185e-14	1	8.67621e-14	30	52				
ENPP2	5168	broad.mit.edu	37	8	120606013	120606013	+	Missense_Mutation	SNP	C	C	T	rs563432387	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:120606013C>T	ENST00000075322.6	-	12	1118	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	ENPP2_ENST00000522826.1_Missense_Mutation_p.V354I|ENPP2_ENST00000427067.2_Missense_Mutation_p.V350I|ENPP2_ENST00000259486.6_Missense_Mutation_p.V406I|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	354					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAAAGATGACGTTGACACAC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		18711	0.0		0.0	False		,,,				2504	0.002				Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1048-1050)Gtc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 2							274.0	254.0	261.0					8																	120606013		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120606013C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1060G>A	8.37:g.120606013C>T	ENSP00000075322:p.Val354Ile					ENPP2_ENST00000259486.6_Missense_Mutation_p.V406I|ENPP2_ENST00000522826.1_Missense_Mutation_p.V354I|ENPP2_ENST00000075322.6_Missense_Mutation_p.V354I	p.V350I			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1228	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		354					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1048G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	5.938	0.357067	0.11239	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.195210	0.44688	D	0.000424	T	0.46308	0.1386	N	0.04724	-0.175	0.44852	D	0.997861	B;B;B	0.17667	0.014;0.006;0.023	B;B;B	0.19391	0.015;0.024;0.025	T	0.44251	-0.9340	10	0.07990	T	0.79	.	12.1817	0.54216	0.0:0.8763:0.0:0.1237	.	354;354;406	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	I	406;350;354;354	ENSP00000259486:V406I;ENSP00000403315:V350I;ENSP00000428291:V354I;ENSP00000075322:V354I	ENSP00000075322:V354I	V	-	1	0	ENPP2	120675194	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	1.529000	0.35996	2.629000	0.89072	0.655000	0.94253	GTC		0.383	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			21	256	0	0	0	1	0	21	256				
ADARB2	105	broad.mit.edu	37	10	1405960	1405960	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:1405960G>T	ENST00000381312.1	-	3	665	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	114					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAGACCAGCTGCAGTTTGCAC	0.721																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(340-342)Cag>Aag		adenosine deaminase, RNA-specific, B2 (non-functional)							23.0	24.0	24.0					10																	1405960		2202	4299	6501	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405960G>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.340C>A	10.37:g.1405960G>T	ENSP00000370713:p.Gln114Lys						p.Q114K	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	665	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	114					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.340C>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	10.34	1.322504	0.23994	.	.	ENSG00000185736	ENST00000381312	T	0.20463	2.07	4.82	3.91	0.45181	.	0.181728	0.50627	N	0.000113	T	0.18002	0.0432	L	0.52573	1.65	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	T	0.04551	-1.0943	10	0.02654	T	1	-28.3423	14.3811	0.66911	0.0:0.0:0.8509:0.1491	.	114	Q9NS39	RED2_HUMAN	K	114	ENSP00000370713:Q114K	ENSP00000370713:Q114K	Q	-	1	0	ADARB2	1395960	1.000000	0.71417	0.654000	0.29608	0.695000	0.40330	7.853000	0.86934	0.994000	0.38892	0.558000	0.71614	CAG		0.721	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		13	27	1	0	0.00316338	1	0.00316338	13	27				
RIF1	55183	broad.mit.edu	37	2	152319494	152319494	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:152319494G>A	ENST00000243326.5	+	29	3943	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	RIF1_ENST00000453091.2_Missense_Mutation_p.E1154K|RIF1_ENST00000444746.2_Missense_Mutation_p.E1154K|RIF1_ENST00000428287.2_Missense_Mutation_p.E1154K|RIF1_ENST00000430328.2_Missense_Mutation_p.E1154K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGAATAATGAGTGTGGTTC	0.388																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(3460-3462)Gag>Aag		RAP1 interacting factor homolog (yeast)							73.0	68.0	69.0					2																	152319494		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152319494G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3460G>A	2.37:g.152319494G>A	ENSP00000243326:p.Glu1154Lys					RIF1_ENST00000428287.2_Missense_Mutation_p.E1154K|RIF1_ENST00000453091.2_Missense_Mutation_p.E1154K|RIF1_ENST00000444746.2_Missense_Mutation_p.E1154K|RIF1_ENST00000430328.2_Missense_Mutation_p.E1154K	p.E1154K			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	3943	+			1154					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.3460G>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	0.089	-1.169779	0.01660	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	5.0	2.06	0.26882	.	1.962020	0.02143	N	0.057304	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.13407	0.002;0.009	T	0.31308	-0.9948	10	0.30854	T	0.27	-0.0194	7.2824	0.26318	0.214:0.1237:0.6623:0.0	.	1154;1154	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	K	1154	ENSP00000390181:E1154K;ENSP00000414615:E1154K;ENSP00000415691:E1154K;ENSP00000243326:E1154K;ENSP00000416123:E1154K	ENSP00000243326:E1154K	E	+	1	0	RIF1	152027740	0.000000	0.05858	0.001000	0.08648	0.236000	0.25371	-0.330000	0.07925	0.467000	0.27218	0.467000	0.42956	GAG		0.388	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			16	23	0	0	0	1	0	16	23				
PCDHB5	26167	broad.mit.edu	37	5	140516218	140516218	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140516218C>G	ENST00000231134.5	+	1	1419	c.1202C>G	c.(1201-1203)aCc>aGc	p.T401S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTTTACACCCTAGTGACA	0.493																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1201-1203)aCc>aGc									88.0	88.0	88.0					5																	140516218		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516218C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1202C>G	5.37:g.140516218C>G	ENSP00000231134:p.Thr401Ser						p.T401S	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1419	+			401			Cadherin 4.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1202C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	0.627	-0.818917	0.02776	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.37915	1.17	4.84	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32675	0.0837	L	0.50333	1.59	0.09310	N	1	B	0.21606	0.058	B	0.33196	0.159	T	0.36672	-0.9738	9	0.45353	T	0.12	.	3.0278	0.06097	0.2195:0.5366:0.139:0.1049	.	401	Q9Y5E4	PCDB5_HUMAN	S	401;185	ENSP00000231134:T401S	ENSP00000231134:T401S	T	+	2	0	PCDHB5	140496402	0.000000	0.05858	0.738000	0.30950	0.091000	0.18340	-0.232000	0.09055	1.098000	0.41479	0.555000	0.69702	ACC		0.493	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		45	46	0	0	0	1	0	45	46				
PCDHGA12	26025	broad.mit.edu	37	5	140811289	140811289	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140811289A>G	ENST00000252085.3	+	1	1105	c.963A>G	c.(961-963)gcA>gcG	p.A321A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGCAAGCAATGGATAATG	0.493																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(961-963)gcA>gcG									168.0	158.0	161.0					5																	140811289		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140811289A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.963A>G	5.37:g.140811289A>G						PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.A321A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1105	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.963A>G	CCDS4260.1																																																																																				0.493	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		56	93	0	0	0	1	0	56	93				
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)cGa>cAa		phosphatase and tensin homolog							139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130Q	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1746	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		108	16	0	0	0	1	0	108	16				
BRINP2	57795	broad.mit.edu	37	1	177247850	177247850	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:177247850G>A	ENST00000361539.4	+	7	1476	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	388					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGACCCATCGGATCCTACGCC	0.612																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1162-1164)cgG>cgA									90.0	93.0	92.0					1																	177247850		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177247850G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1164G>A	1.37:g.177247850G>A						FAM5B_ENST00000478325.1_3'UTR	p.R388R	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1476	+			388					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.1164G>A	CCDS1320.1																																																																																				0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		43	65	0	0	0	1	0	43	65				
CLASP1	23332	broad.mit.edu	37	2	122176222	122176222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:122176222G>A	ENST00000263710.4	-	23	2685	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S	CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000397587.3_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	766	Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCCCGAGCAGGGCTTGTATCT	0.597																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(2296-2298)Cct>Tct		cytoplasmic linker associated protein 1							79.0	87.0	85.0					2																	122176222		2064	4199	6263	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122176222G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2296C>T	2.37:g.122176222G>A	ENSP00000263710:p.Pro766Ser					CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron	p.P766S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			23	2685	-	Renal(3;0.0496)		766			Interaction with microtubules, MAPRE1 and MAPRE3.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.507069	0.96386	.	.	ENSG00000074054	ENST00000263710	T	0.23950	1.88	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57717	-0.7763	10	0.51188	T	0.08	-18.3482	20.2314	0.98350	0.0:0.0:1.0:0.0	.	766	Q7Z460	CLAP1_HUMAN	S	766	ENSP00000263710:P766S	ENSP00000263710:P766S	P	-	1	0	CLASP1	121892692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.853000	0.99521	2.789000	0.95967	0.591000	0.81541	CCT		0.597	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		29	57	0	0	0	1	0	29	57				
KDM4E	390245	broad.mit.edu	37	11	94759083	94759083	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:94759083G>A	ENST00000450979.2	+	1	662	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	121					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TTGGAGCAACGATACTGGAAG	0.463																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(361-363)cGa>cAa		lysine (K)-specific demethylase 4E							4.0	4.0	4.0					11																	94759083		656	1536	2192	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759083G>A	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.362G>A	11.37:g.94759083G>A	ENSP00000397239:p.Arg121Gln						p.R121Q	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	662	+			121						Missense_Mutation	SNP	ENST00000450979.2	37	c.362G>A	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	g	6.099	0.386498	0.11524	.	.	ENSG00000235268	ENST00000450979	T	0.30448	1.53	2.72	1.55	0.23275	.	.	.	.	.	T	0.10078	0.0247	N	0.01352	-0.895	0.26482	N	0.975098	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.46703	T	0.11	-15.0775	4.801	0.13296	0.8437:0.0:0.1563:0.0	.	121	B2RXH2	KD4DL_HUMAN	Q	121	ENSP00000397239:R121Q	ENSP00000397239:R121Q	R	+	2	0	KDM4DL	94398731	1.000000	0.71417	0.373000	0.26003	0.010000	0.07245	5.002000	0.63952	0.278000	0.22164	-0.611000	0.04053	CGA		0.463	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		7	3	0	0	0	1	0	7	3				
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			102723968							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			8	109						8	109	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33332322	33332323	+	IGR	DEL	GA	GA	-			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:33332322_33332323delGA	ENST00000378526.4	+	0	3721				RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000580569.1_5'Flank	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent						base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CACCAACATGGAGACTTTGTAC	0.47								Other BER factors																														ENST00000578488.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:33332322_33332323delGA		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519		17.37:g.33332324_33332325delGA														0	216_217	+								Q16714|Q6NVK3	RNA	DEL	ENST00000378526.4	37		CCDS11284.2																																																																																				0.470	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		6	8						6	8	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			3	5						3	5	---	---	---	---
