#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
ACTRT2	140625	broad.mit.edu	37	1	2938845	2938845	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:2938845G>T	ENST00000378404.2	+	1	800	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCTCCTGGCCAGCGGCCA	0.617																																						uc001ajz.2																			0					0						c.(595-597)GCC>TCC		actin-related protein M2							37.0	39.0	38.0					1																	2938845		2203	4298	6501	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938845G>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.595G>T	1.37:g.2938845G>T	ENSP00000367658:p.Ala199Ser						p.A199S	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	800	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	199					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.595G>T	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538681	0.27475	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.94092	-3.35	4.85	2.65	0.31530	.	0.627359	0.14189	N	0.335478	D	0.88168	0.6364	L	0.33624	1.015	0.34544	D	0.710604	P	0.34462	0.454	B	0.34931	0.192	D	0.90523	0.4490	10	0.87932	D	0	.	8.8299	0.35078	0.0987:0.1587:0.7426:0.0	.	199	Q8TDY3	ACTT2_HUMAN	S	199	ENSP00000367658:A199S	ENSP00000367658:A199S	A	+	1	0	ACTRT2	2928705	1.000000	0.71417	0.998000	0.56505	0.110000	0.19582	4.631000	0.61304	2.228000	0.72767	0.561000	0.74099	GCC		0.617	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431	
TPRG1L	127262	broad.mit.edu	37	1	3545150	3545150	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:3545150G>A	ENST00000378344.2	+	5	873	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TPRG1L_ENST00000344579.5_Missense_Mutation_p.G209S	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	268						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CATGACCAGGGGCAAAATAGG	0.612																																						uc001akm.2																			0					0						c.(802-804)GGC>AGC		tumor protein p63 regulated 1-like							62.0	55.0	58.0					1																	3545150		2203	4298	6501	SO:0001583	missense	127262					cell junction|synaptic vesicle		g.chr1:3545150G>A	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.802G>A	1.37:g.3545150G>A	ENSP00000367595:p.Gly268Ser					TPRG1L_uc009vlj.2_Missense_Mutation_p.G209S	p.G268S	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	5	883	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	268					A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	c.802G>A	CCDS47.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203861	0.95033	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80070	-0.1536	9	0.49607	T	0.09	-5.6888	17.9329	0.89004	0.0:0.0:1.0:0.0	.	209;268	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	S	268;225;209	.	ENSP00000339714:G209S	G	+	1	0	TPRG1L	3535010	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.401000	0.97294	2.468000	0.83385	0.655000	0.94253	GGC		0.612	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752	
PCSK9	255738	broad.mit.edu	37	1	55523733	55523733	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:55523733C>T	ENST00000302118.5	+	8	1495	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A202V	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	402	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGCTGTCTGCCGAGCCGGAG	0.612																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1204-1206)GCC>GTC		proprotein convertase subtilisin/kexin type 9							68.0	63.0	65.0					1																	55523733		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523733C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1205C>T	1.37:g.55523733C>T	ENSP00000303208:p.Ala402Val					PCSK9_uc010oom.1_RNA	p.A402V	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			8	1496	+			402			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1205C>T	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082509	0.20309	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89485	-2.52;-2.52	4.39	1.39	0.22231	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.373866	0.26750	N	0.022692	T	0.73156	0.3551	N	0.20483	0.58	0.09310	N	1	B	0.32302	0.363	B	0.24394	0.053	T	0.60762	-0.7199	10	0.30078	T	0.28	-9.1322	2.8742	0.05626	0.1419:0.5517:0.1465:0.16	.	402	Q8NBP7	PCSK9_HUMAN	V	402;202	ENSP00000303208:A402V;ENSP00000441859:A202V	ENSP00000303208:A402V	A	+	2	0	PCSK9	55296321	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	1.074000	0.30703	0.064000	0.16427	-0.986000	0.02555	GCC		0.612	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
ADAM30	11085	broad.mit.edu	37	1	120436835	120436835	+	Missense_Mutation	SNP	G	G	A	rs529944099		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:120436835G>A	ENST00000369400.1	-	1	2283	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	709					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCACTTGCCGGAAAAACACA	0.393																																						uc001eij.2																			0				ovary(2)|lung(1)	3						c.(2125-2127)CGG>TGG		ADAM metallopeptidase domain 30 preproprotein							94.0	99.0	98.0					1																	120436835		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436835G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2125C>T	1.37:g.120436835G>A	ENSP00000358407:p.Arg709Trp						p.R709W	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2279	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	709			Cytoplasmic (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2125C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942112	0.53079	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01258	5.09	4.94	-3.69	0.04450	.	0.899723	0.09214	U	0.832834	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.23591	0.088	B	0.11329	0.006	T	0.45745	-0.9240	10	0.59425	D	0.04	.	0.3393	0.00331	0.3294:0.1573:0.2656:0.2477	.	709	Q9UKF2	ADA30_HUMAN	W	709	ENSP00000358407:R709W	ENSP00000358407:R709W	R	-	1	2	ADAM30	120238358	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.158000	0.10070	-0.778000	0.04566	-0.136000	0.14681	CGG		0.393	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
PDC	5132	broad.mit.edu	37	1	186413476	186413476	+	Missense_Mutation	SNP	T	T	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:186413476T>G	ENST00000391997.2	-	4	463	c.376A>C	c.(376-378)Aca>Cca	p.T126P	PDC_ENST00000497198.1_Missense_Mutation_p.T74P|PDC_ENST00000456239.2_Missense_Mutation_p.T74P|PDC_ENST00000340129.5_Missense_Mutation_p.T126P	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	126	Thioredoxin fold. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTTTCAATTGTTTCTAGGAAT	0.398																																						uc001gsa.2																			0				skin(1)	1						c.(376-378)ACA>CCA		phosducin isoform a							179.0	185.0	183.0					1																	186413476		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186413476T>G	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.376A>C	1.37:g.186413476T>G	ENSP00000375855:p.Thr126Pro					PDC_uc001grz.2_Missense_Mutation_p.T74P	p.T126P	NM_002597	NP_002588	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	4	449	-		Breast(1374;1.53e-05)	126					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.376A>C	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994447	0.74703	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.58	3.26	0.37387	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.151310	0.64402	D	0.000015	T	0.41743	0.1172	L	0.29908	0.895	0.35960	D	0.834559	P	0.38582	0.638	P	0.48795	0.59	T	0.51663	-0.8677	10	0.66056	D	0.02	-20.2834	4.4918	0.11817	0.0:0.4819:0.0:0.5181	.	126	P20941	PHOS_HUMAN	P	126;74;74;126	ENSP00000375855:T126P;ENSP00000422775:T74P;ENSP00000411564:T74P;ENSP00000342033:T126P	ENSP00000342033:T126P	T	-	1	0	PDC	184680099	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	3.051000	0.49885	0.957000	0.37930	0.533000	0.62120	ACA		0.398	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577	
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(592-594)AAC>AAT		cardiac muscle ryanodine receptor							113.0	114.0	114.0					1																	237550598		2003	4178	6181	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237550598C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.594C>T	1.37:g.237550598C>T							p.N198N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	714	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	198			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.594C>T	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ZMIZ1	57178	broad.mit.edu	37	10	81066012	81066012	+	Missense_Mutation	SNP	A	A	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:81066012A>C	ENST00000334512.5	+	22	3151	c.2579A>C	c.(2578-2580)gAg>gCg	p.E860A	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E13A	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	860					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGTCATGGAGATGATCGCA	0.612																																						uc001kaf.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(2578-2580)GAG>GCG		retinoic acid induced 17							72.0	68.0	69.0					10																	81066012		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81066012A>C	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2579A>C	10.37:g.81066012A>C	ENSP00000334474:p.Glu860Ala					ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	p.E860A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		22	3151	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		860					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2579A>C	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541451	0.85917	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.35973	1.28	4.82	4.82	0.62117	.	0.000000	0.41938	D	0.000792	T	0.44561	0.1299	M	0.72118	2.19	0.80722	D	1	D;P	0.54964	0.969;0.774	P;B	0.46975	0.533;0.397	T	0.46911	-0.9157	10	0.40728	T	0.16	-10.4552	14.6924	0.69096	1.0:0.0:0.0:0.0	.	13;860	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	A	860;790;762;13	ENSP00000334474:E860A	ENSP00000334474:E860A	E	+	2	0	ZMIZ1	80736018	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.930000	0.92872	1.946000	0.56461	0.260000	0.18958	GAG		0.612	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
PTEN	5728	broad.mit.edu	37	10	89690814	89690814	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:89690814G>C	ENST00000371953.3	+	4	1578	c.221G>C	c.(220-222)aGa>aCa	p.R74T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	74	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(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)		TGTGCTGAAAGACATTATGAC	0.313		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)																												uc001kfb.2		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		59	Whole gene deletion(37)|Deletion - Frameshift(16)|Unknown(6)	p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.R74I(1)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|breast(7)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(220-222)AGA>ACA		phosphatase and tensin homolog							78.0	73.0	75.0					10																	89690814		2202	4295	6497	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|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.chr10:89690814G>C	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.221G>C	10.37:g.89690814G>C	ENSP00000361021:p.Arg74Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R74T	NM_000314	NP_000305	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	1252	+		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)	74			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.221G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166531	0.94768	.	.	ENSG00000171862	ENST00000371953	D	0.98512	-4.97	5.62	5.62	0.85841	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98903	1.0777	9	.	.	.	-12.5269	20.0185	0.97487	0.0:0.0:1.0:0.0	.	74	P60484	PTEN_HUMAN	T	74	ENSP00000361021:R74T	.	R	+	2	0	PTEN	89680794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	AGA		0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PRLHR	2834	broad.mit.edu	37	10	120354176	120354176	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:120354176G>A	ENST00000369169.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PRLHR_ENST00000239032.2_Missense_Mutation_p.A194V			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	194				A -> P (in Ref. 1; AAC50504). {ECO:0000305}.	feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTGCACGGCGGCGGGCAGCGC	0.716																																						uc001ldp.1																			0					0						c.(580-582)GCC>GTC		G protein-coupled receptor 10							10.0	12.0	11.0					10																	120354176		2186	4261	6447	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354176G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.581C>T	10.37:g.120354176G>A	ENSP00000358167:p.Ala194Val						p.A194V	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	720	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	194	A -> P (in Ref. 1; AAC50504).		Helical; Name=4; (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.581C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944253	0.34283	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.36340	1.26;1.26	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.31476	0.935	0.58432	D	0.999999	P	0.40398	0.716	B	0.42319	0.383	T	0.03784	-1.1004	10	0.17369	T	0.5	.	17.4676	0.87638	0.0:0.0:1.0:0.0	.	194	P49683	PRLHR_HUMAN	V	194	ENSP00000239032:A194V;ENSP00000358167:A194V	ENSP00000239032:A194V	A	-	2	0	PRLHR	120344166	1.000000	0.71417	0.969000	0.41365	0.671000	0.39405	7.701000	0.84566	2.355000	0.79922	0.655000	0.94253	GCC		0.716	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248	
INPP5A	3632	broad.mit.edu	37	10	134523875	134523875	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:134523875G>C	ENST00000368594.3	+	8	839	c.562G>C	c.(562-564)Gat>Cat	p.D188H	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.D188H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	188					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCTTTTCCATGATGCTTCCAA	0.562																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2																			0				skin(1)	1						c.(562-564)GAT>CAT		inositol polyphosphate-5-phosphatase A							99.0	79.0	86.0					10																	134523875		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134523875G>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.562G>C	10.37:g.134523875G>C	ENSP00000357583:p.Asp188His					INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.2_Missense_Mutation_p.D140H	p.D188H	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	8	810	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	188					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.562G>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358298|4.358298	0.82243|0.82243	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000536599;ENST00000432898;ENST00000423490|ENST00000342652	T;T;T|.	0.46063|.	0.88;0.88;0.88|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.183945|.	0.48767|.	D|.	0.000169|.	T|.	0.71082|.	0.3298|.	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.994;1.0|.	D;D;D|.	0.78314|.	0.991;0.944;0.981|.	T|.	0.70339|.	-0.4899|.	10|.	0.41790|.	T|.	0.15|.	-27.6104|-27.6104	17.7848|17.7848	0.88534|0.88534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;188;188|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	H|S	188;188;188;125;105;111|159	ENSP00000357583:D188H;ENSP00000357582:D188H;ENSP00000390936:D111H|.	ENSP00000357582:D188H|.	D|X	+|+	1|2	0|2	INPP5A|INPP5A	134373865|134373865	1.000000|1.000000	0.71417|0.71417	0.854000|0.854000	0.33618|0.33618	0.962000|0.962000	0.63368|0.63368	8.621000|8.621000	0.90949|0.90949	2.281000|2.281000	0.76405|0.76405	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.562	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	
BBOX1	8424	broad.mit.edu	37	11	27114719	27114719	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:27114719C>T	ENST00000529202.1	+	4	678	c.339C>T	c.(337-339)tgC>tgT	p.C113C	BBOX1_ENST00000263182.3_Silent_p.C113C|BBOX1_ENST00000525090.1_Silent_p.C113C|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000528583.1_Silent_p.C113C|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	113					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCACAGAATGCCAATACTGGG	0.393																																						uc001mre.1																			0				ovary(1)	1						c.(337-339)TGC>TGT		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						48.0	49.0	49.0					11																	27114719		2202	4298	6500	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27114719C>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.339C>T	11.37:g.27114719C>T						BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C	p.C113C	NM_003986	NP_003977	O75936	BODG_HUMAN			5	707	+			113					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.339C>T	CCDS7862.1																																																																																				0.393	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986	
SYT13	57586	broad.mit.edu	37	11	45274269	45274269	+	Silent	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:45274269C>A	ENST00000020926.3	-	4	660	c.549G>T	c.(547-549)gtG>gtT	p.V183V	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	183	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTTGCTGGTCACAGCTGCAG	0.587											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			0				ovary(1)	1						c.(547-549)GTG>GTT		synaptotagmin XIII							63.0	60.0	61.0					11																	45274269		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45274269C>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.549G>T	11.37:g.45274269C>A			OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Silent_p.V39V	p.V183V	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	675	-			183			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.549G>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	0.725	-0.782204	0.02907	.	.	ENSG00000019505	ENST00000528101	.	.	.	5.85	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7133	0.45997	0.0:0.7919:0.1365:0.0716	.	.	.	.	L	143	.	.	X	-	2	2	SYT13	45230845	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	1.016000	0.29976	0.793000	0.33875	-0.258000	0.10820	TGA		0.587	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
KCTD14	65987	broad.mit.edu	37	11	77728030	77728030	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:77728030G>A	ENST00000353172.5	-	2	421	c.377C>T	c.(376-378)cCa>cTa	p.P126L	NDUFC2-KCTD14_ENST00000528251.1_3'UTR|KCTD14_ENST00000533144.1_Missense_Mutation_p.P96L|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	126	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAAGATCTGTGGCATGTCCTC	0.567																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3																			0				ovary(2)	2						c.(376-378)CCA>CTA		potassium channel tetramerisation domain							69.0	63.0	65.0					11																	77728030		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77728030G>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.377C>T	11.37:g.77728030G>A	ENSP00000316482:p.Pro126Leu						p.P126L	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	402	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		126			BTB.		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.377C>T	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644437	0.67244	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.38077	1.16;1.16	4.76	4.76	0.60689	BTB/POZ-like (1);BTB/POZ fold (1);	0.056748	0.64402	N	0.000001	T	0.53786	0.1818	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.43940	-0.9360	10	0.19590	T	0.45	.	16.9636	0.86279	0.0:0.0:1.0:0.0	.	126	Q9BQ13	KCD14_HUMAN	L	126;96	ENSP00000316482:P126L;ENSP00000431155:P96L	ENSP00000316482:P126L	P	-	2	0	KCTD14	77405678	1.000000	0.71417	0.472000	0.27241	0.298000	0.27526	6.947000	0.75959	2.473000	0.83533	0.561000	0.74099	CCA		0.567	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930	
KDM4D	55693	broad.mit.edu	37	11	94731105	94731105	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:94731105C>T	ENST00000335080.5	+	3	1401	c.569C>T	c.(568-570)gCt>gTt	p.A190V	KDM4D_ENST00000536741.1_Missense_Mutation_p.A190V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	190	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACGTTTGCTTGGCATACA	0.512																																						uc001pfe.2																			0					0						c.(568-570)GCT>GTT		jumonji domain containing 2D							149.0	143.0	145.0					11																	94731105		2201	4298	6499	SO:0001583	missense	55693				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.chr11:94731105C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.569C>T	11.37:g.94731105C>T	ENSP00000334181:p.Ala190Val						p.A190V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1401	+			190			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.569C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929417	0.73327	.	.	ENSG00000186280	ENST00000335080	T	0.72282	-0.64	3.88	3.88	0.44766	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000002	D	0.86781	0.6015	M	0.92555	3.32	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	D	0.89823	0.3990	10	0.87932	D	0	-17.0508	14.1827	0.65586	0.0:1.0:0.0:0.0	.	190	Q6B0I6	KDM4D_HUMAN	V	190	ENSP00000334181:A190V	ENSP00000334181:A190V	A	+	2	0	KDM4D	94370753	1.000000	0.71417	0.199000	0.23439	0.539000	0.34962	7.309000	0.78937	2.467000	0.83353	0.462000	0.41574	GCT		0.512	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039	
KMT2A	4297	broad.mit.edu	37	11	118359396	118359396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:118359396T>C	ENST00000389506.5	+	11	4400	c.4400T>C	c.(4399-4401)cTg>cCg	p.L1467P	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1429P|KMT2A_ENST00000534358.1_Missense_Mutation_p.L1467P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1467					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGCGCCCTCTGGAGGACCAG	0.433																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4399-4401)CTG>CCG		myeloid/lymphoid or mixed-lineage leukemia							130.0	117.0	121.0					11																	118359396		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118359396T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4400T>C	11.37:g.118359396T>C	ENSP00000374157:p.Leu1467Pro					MLL_uc001ptb.2_Missense_Mutation_p.L1467P|MLL_uc001pte.1_RNA	p.L1467P	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	11	4423	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1467			PHD-type 1.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4400T>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983106	0.53827	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.52	4.38	0.52667	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.89691	0.6788	M	0.64997	1.995	0.80722	D	1	D;P	0.63880	0.993;0.612	P;B	0.56088	0.791;0.347	D	0.87873	0.2672	10	0.51188	T	0.08	.	5.3657	0.16113	0.1295:0.1402:0.0:0.7303	.	1467;1467	E9PQG7;Q03164	.;MLL1_HUMAN	P	1467;1467;1429;377;179	ENSP00000436786:L1467P;ENSP00000374157:L1467P;ENSP00000346516:L1429P;ENSP00000376612:L179P	ENSP00000346516:L1429P	L	+	2	0	MLL	117864606	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.008000	0.49544	1.021000	0.39600	0.533000	0.62120	CTG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
OR4D5	219875	broad.mit.edu	37	11	123810626	123810626	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123810626C>T	ENST00000307033.2	+	1	377	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TGACTCAACTCTTCTTCTTCC	0.507																																						uc001pzk.1																			0				ovary(1)	1						c.(301-303)CTC>CTT		olfactory receptor, family 4, subfamily D,							130.0	110.0	117.0					11																	123810626		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810626C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.303C>T	11.37:g.123810626C>T							p.L101L	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	303	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101			Helical; Name=3; (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.303C>T	CCDS31699.1																																																																																				0.507	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552																																						uc001pzm.1																			0				ovary(1)|skin(1)	2						c.(535-537)CGC>CAC		olfactory receptor, family 10, subfamily S,		C	HIS/ARG	0,4404		0,0,2202	102.0	88.0	92.0		536	-9.8	0.1	11	dbSNP_134	92	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10S1	NM_001004474.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	179/332	123847863	1,13001	2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847863C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.536G>A	11.37:g.123847863C>T	ENSP00000431914:p.Arg179His						p.R179H	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	536	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.536G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
PATE2	399967	broad.mit.edu	37	11	125648646	125648646	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:125648646C>T	ENST00000358524.3	-	1	68	c.23G>A	c.(22-24)gGc>gAc	p.G8D	PATE2_ENST00000436890.2_Missense_Mutation_p.G8D	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	8						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AAAGACTGTGCCCAGGAGAAA	0.522																																						uc001qcu.2																			0					0						c.(22-24)GGC>GAC		prostate and testis expressed 2 precursor							87.0	86.0	87.0					11																	125648646		2201	4299	6500	SO:0001583	missense	399967					extracellular space		g.chr11:125648646C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.23G>A	11.37:g.125648646C>T	ENSP00000351325:p.Gly8Asp					PATE2_uc010sbj.1_Missense_Mutation_p.G8D	p.G8D	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN			1	69	-			8					B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	c.23G>A	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	C	3.844	-0.033210	0.07543	.	.	ENSG00000196844	ENST00000358524;ENST00000436890	D	0.91894	-2.93	4.27	0.143	0.14820	.	1.631630	0.03006	N	0.148761	D	0.82518	0.5054	N	0.08118	0	0.09310	N	1	P;P	0.37207	0.587;0.587	B;B	0.40066	0.318;0.318	T	0.75402	-0.3330	10	0.18276	T	0.48	-14.6583	3.2599	0.06845	0.1908:0.5004:0.0:0.3088	.	8;8	Q6UY27-2;Q6UY27	.;PATE2_HUMAN	D	8	ENSP00000351325:G8D	ENSP00000351325:G8D	G	-	2	0	PATE2	125153856	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.457000	0.06745	0.034000	0.15491	0.591000	0.81541	GGC		0.522	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	
ANO2	57101	broad.mit.edu	37	12	5687643	5687643	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:5687643G>C	ENST00000356134.5	-	23	2349	c.2278C>G	c.(2278-2280)Ccc>Gcc	p.P760A	ANO2_ENST00000327087.8_Missense_Mutation_p.P759A|ANO2_ENST00000546188.1_Missense_Mutation_p.P760A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	764					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTGCCAGGGGAAAGGAGGCC	0.537																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2275-2277)CCC>GCC		anoctamin 2							69.0	76.0	74.0					12																	5687643		2071	4200	6271	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687643G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2278C>G	12.37:g.5687643G>C	ENSP00000348453:p.Pro760Ala						p.P759A	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			22	2347	-			764			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2275C>G		.	.	.	.	.	.	.	.	.	.	G	25.3	4.621835	0.87460	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.78816	-1.21;-1.21;-1.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94662	0.7849	10	0.87932	D	0	.	16.9734	0.86306	0.0:0.0:1.0:0.0	.	759	Q9NQ90-3	.	A	759;760;760;764	ENSP00000314048:P759A;ENSP00000348453:P760A;ENSP00000440981:P760A	ENSP00000314048:P759A	P	-	1	0	ANO2	5557904	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.657000	0.98554	2.493000	0.84123	0.655000	0.94253	CCC		0.537	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
KMT2D	8085	broad.mit.edu	37	12	49432573	49432573	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:49432573C>G	ENST00000301067.7	-	34	8565	c.8566G>C	c.(8566-8568)Gga>Cga	p.G2856R	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2856					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGAAATTCCCGCCAACGGG	0.597																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(8566-8568)GGA>CGA		myeloid/lymphoid or mixed-lineage leukemia 2							21.0	22.0	22.0					12																	49432573		1960	4136	6096	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49432573C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8566G>C	12.37:g.49432573C>G	ENSP00000301067:p.Gly2856Arg	HNSCC(34;0.089)					p.G2856R	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	8566	-			2856					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8566G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125150	0.06795	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	5.57	5.57	0.84162	.	0.000000	0.35838	N	0.002960	T	0.80763	0.4685	N	0.22421	0.69	0.29404	N	0.861703	D	0.64830	0.994	P	0.58577	0.841	T	0.78360	-0.2234	10	0.87932	D	0	.	14.9472	0.71042	0.0:0.8563:0.1437:0.0	.	2856	O14686	MLL2_HUMAN	R	2856	ENSP00000301067:G2856R	ENSP00000301067:G2856R	G	-	1	0	MLL2	47718840	0.020000	0.18652	0.965000	0.40720	0.151000	0.21798	1.089000	0.30890	2.798000	0.96311	0.650000	0.86243	GGA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
CALCOCO1	57658	broad.mit.edu	37	12	54105903	54105903	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:54105903C>G	ENST00000550804.1	-	15	1961	c.1901G>C	c.(1900-1902)gGc>gCc	p.G634A	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.G549A|CALCOCO1_ENST00000548263.1_3'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.G633A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	634	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGTAAAGCCACTAAGAGA	0.577																																						uc001sef.2																			0				ovary(1)	1						c.(1900-1902)GGC>GCC		coiled-coil transcriptional coactivator isoform							46.0	41.0	42.0					12																	54105903		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54105903C>G	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1901G>C	12.37:g.54105903C>G	ENSP00000449960:p.Gly634Ala					CALCOCO1_uc001see.2_Missense_Mutation_p.G159A|CALCOCO1_uc010som.1_Missense_Mutation_p.G549A|CALCOCO1_uc010son.1_Missense_Mutation_p.G511A|CALCOCO1_uc001seh.2_3'UTR|CALCOCO1_uc009znd.2_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.2_Missense_Mutation_p.G459A	p.G634A	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			15	2045	-			634			C-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1901G>C	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.856751	0.32791	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000550804	T;T;T	0.35789	1.29;2.89;2.78	3.56	2.65	0.31530	.	0.224350	0.22912	N	0.054133	T	0.14056	0.0340	N	0.03608	-0.345	0.29886	N	0.825606	B;B;B;B;B	0.15141	0.003;0.012;0.003;0.007;0.007	B;B;B;B;B	0.21708	0.011;0.036;0.011;0.016;0.008	T	0.26985	-1.0087	10	0.02654	T	1	-11.5382	11.0477	0.47867	0.0:0.8111:0.1889:0.0	.	549;633;549;634;335	E9PAU0;Q9P1Z2-3;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;CACO1_HUMAN;.	A	335;549;633;572;634	ENSP00000397189:G549A;ENSP00000262059:G633A;ENSP00000449960:G634A	ENSP00000262059:G633A	G	-	2	0	CALCOCO1	52392170	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.132000	0.42083	1.062000	0.40625	0.457000	0.33378	GGC		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898	
SUOX	6821	broad.mit.edu	37	12	56398139	56398139	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:56398139C>G	ENST00000394109.3	+	3	1690	c.966C>G	c.(964-966)gaC>gaG	p.D322E	SUOX_ENST00000266971.3_Missense_Mutation_p.D322E|SUOX_ENST00000356124.4_Missense_Mutation_p.D322E|SUOX_ENST00000394115.2_Missense_Mutation_p.D322E|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.D322E			P51687	SUOX_HUMAN	sulfite oxidase	322	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGGACTGGACTCAGACCCTA	0.607																																						uc001six.2																			0					0						c.(964-966)GAC>GAG		sulfite oxidase precursor							53.0	47.0	49.0					12																	56398139		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398139C>G	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.966C>G	12.37:g.56398139C>G	ENSP00000377668:p.Asp322Glu					SUOX_uc001siy.2_Missense_Mutation_p.D322E|SUOX_uc001siz.2_Missense_Mutation_p.D322E|SUOX_uc001sja.2_Missense_Mutation_p.D322E	p.D322E	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	1292	+			322			Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.966C>G	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226770	0.58668	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8	5.11	0.103	0.14526	Oxidoreductase, molybdopterin-binding domain (3);	0.106852	0.64402	D	0.000012	D	0.95001	0.8382	M	0.65320	2	0.49483	D	0.999795	P	0.40250	0.709	P	0.51945	0.685	D	0.91184	0.4978	10	0.38643	T	0.18	-14.3826	8.9801	0.35959	0.0:0.5203:0.0:0.4797	.	322	P51687	SUOX_HUMAN	E	322	ENSP00000348440:D322E;ENSP00000266971:D322E;ENSP00000377674:D322E;ENSP00000450245:D322E;ENSP00000377668:D322E	ENSP00000266971:D322E	D	+	3	2	SUOX	54684406	0.661000	0.27430	0.995000	0.50966	0.987000	0.75469	0.032000	0.13732	-0.070000	0.12908	0.585000	0.79938	GAC		0.607	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456	
LRRIQ1	84125	broad.mit.edu	37	12	85450952	85450952	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:85450952C>G	ENST00000393217.2	+	8	2442	c.2381C>G	c.(2380-2382)aCt>aGt	p.T794S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	794										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTGGGATACTTTACAGCAG	0.313																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2380-2382)ACT>AGT		leucine-rich repeats and IQ motif containing 1							74.0	83.0	80.0					12																	85450952		2202	4300	6502	SO:0001583	missense	84125							g.chr12:85450952C>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2381C>G	12.37:g.85450952C>G	ENSP00000376910:p.Thr794Ser					LRRIQ1_uc001tab.1_Missense_Mutation_p.T794S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	p.T794S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2492	+			794					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2381C>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.317004	0.10845	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.23552	1.9	5.56	2.68	0.31781	.	0.350509	0.26140	N	0.026116	T	0.10423	0.0255	N	0.13352	0.335	0.09310	N	0.999999	P;B	0.38788	0.647;0.264	B;B	0.27380	0.079;0.03	T	0.22103	-1.0226	10	0.24483	T	0.36	.	7.9987	0.30284	0.2852:0.6422:0.0:0.0727	.	794;769	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	794;769;794	ENSP00000376910:T794S	ENSP00000256007:T794S	T	+	2	0	LRRIQ1	83975083	0.362000	0.24980	0.400000	0.26346	0.860000	0.49131	2.316000	0.43761	0.269000	0.21961	0.591000	0.81541	ACT		0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
ISCU	23479	broad.mit.edu	37	12	108962628	108962628	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:108962628A>G	ENST00000311893.9	+	5	462	c.440A>G	c.(439-441)aAg>aGg	p.K147R	ISCU_ENST00000392807.4_Missense_Mutation_p.K122R|ISCU_ENST00000547005.1_3'UTR|ISCU_ENST00000431221.2_3'UTR|ISCU_ENST00000338291.4_3'UTR|ISCU_ENST00000540154.1_3'UTR	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	147					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GATGCAATCAAGGCCGCCCTG	0.478																																						uc010sxc.1																			0					0						c.(439-441)AAG>AGG		iron-sulfur cluster assembly enzyme isoform							49.0	48.0	48.0					12																	108962628		2203	4300	6503	SO:0001583	missense	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108962628A>G	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.440A>G	12.37:g.108962628A>G	ENSP00000310623:p.Lys147Arg					ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.3_Missense_Mutation_p.K122R|ISCU_uc009zuy.2_3'UTR|ISCU_uc010sxd.1_3'UTR	p.K147R	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN			5	545	+			147					Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	c.440A>G	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212615	0.58452	.	.	ENSG00000136003	ENST00000311893;ENST00000392807	T;T	0.78481	-1.18;-1.12	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.144523	0.64402	N	0.000009	T	0.69984	0.3172	L	0.39147	1.195	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.26416	0.069;0.02	T	0.67688	-0.5606	10	0.56958	D	0.05	.	9.2087	0.37304	0.9177:0.0:0.0823:0.0	.	147;122	Q9H1K1;Q9H1K1-2	ISCU_HUMAN;.	R	147;122	ENSP00000310623:K147R;ENSP00000376554:K122R	ENSP00000310623:K147R	K	+	2	0	ISCU	107486757	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.939000	0.56591	2.103000	0.63969	0.533000	0.62120	AAG		0.478	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301	
HNF1A	6927	broad.mit.edu	37	12	121426701	121426701	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:121426701G>T	ENST00000257555.6	+	2	618	c.392G>T	c.(391-393)cGg>cTg	p.R131L	HNF1A_ENST00000543427.1_Missense_Mutation_p.R14L|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.R131L|HNF1A_ENST00000541395.1_Missense_Mutation_p.R131L|HNF1A_ENST00000402929.1_Missense_Mutation_p.R131L|HNF1A_ENST00000544413.1_Missense_Mutation_p.R131L			P20823	HNF1A_HUMAN	HNF1 homeobox A	131	Interaction with DNA.		R -> Q (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:9032114, ECO:0000269|PubMed:9287053}.|R -> W (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:9075818, ECO:0000269|PubMed:9166684}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCCACAGCGGGAGGTGGTC	0.622									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2																			0		p.R131W(1)		liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	GRCh37	CM961361	HNF1A	M		c.(391-393)CGG>CTG		hepatic nuclear factor-1-alpha							158.0	120.0	133.0					12																	121426701		2203	4300	6503	SO:0001583	missense	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121426701G>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.392G>T	12.37:g.121426701G>T	ENSP00000257555:p.Arg131Leu					HNF1A_uc001tze.1_Missense_Mutation_p.R131L|HNF1A_uc001tzf.2_Missense_Mutation_p.R131L|HNF1A_uc010szn.1_Missense_Mutation_p.R131L	p.R131L	NM_000545	NP_000536	P20823	HNF1A_HUMAN			2	415	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		131		R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding).	Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.392G>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203934	0.95033	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	D	0.000006	D	0.99453	0.9806	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.98732	1.0713	10	0.87932	D	0	-41.949	17.4481	0.87584	0.0:0.0:1.0:0.0	.	131;131;131;131	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	L	131;131;131;131;131;131;14;131;131;131;131;131	ENSP00000257555:R131L;ENSP00000439721:R14L;ENSP00000443112:R131L;ENSP00000438804:R131L	ENSP00000257555:R131L	R	+	2	0	HNF1A	119911084	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.398000	0.97281	2.348000	0.79779	0.530000	0.56133	CGG		0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
GOLGA3	2802	broad.mit.edu	37	12	133383767	133383767	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:133383767C>T	ENST00000450791.2	-	5	1469	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	GOLGA3_ENST00000204726.3_Missense_Mutation_p.S429N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S429N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S429N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S429N			Q08378	GOGA3_HUMAN	golgin A3	429					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTTACCTGACTCGCCTCCAG	0.547																																						uc001ukz.1																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1285-1287)AGT>AAT		Golgi autoantigen, golgin subfamily a, 3							80.0	50.0	60.0					12																	133383767		2202	4300	6502	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133383767C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1286G>A	12.37:g.133383767C>T	ENSP00000410378:p.Ser429Asn					GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.2_Missense_Mutation_p.S429N	p.S429N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	6	1845	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	429			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1286G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607955	0.28623	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.33	3.36	0.38483	.	0.208186	0.56097	D	0.000023	T	0.57110	0.2031	N	0.12182	0.205	0.80722	D	1	B;B;B	0.18863	0.021;0.011;0.031	B;B;B	0.18263	0.021;0.015;0.019	T	0.51244	-0.8730	10	0.34782	T	0.22	.	7.2089	0.25923	0.0:0.5673:0.3249:0.1078	.	429;429;429	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	N	429	ENSP00000204726:S429N;ENSP00000410378:S429N;ENSP00000409303:S429N;ENSP00000442143:S429N;ENSP00000442603:S429N	ENSP00000204726:S429N	S	-	2	0	GOLGA3	131893840	0.995000	0.38212	0.994000	0.49952	0.861000	0.49209	0.328000	0.19681	1.225000	0.43566	0.561000	0.74099	AGT		0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
GSX1	219409	broad.mit.edu	37	13	28367747	28367747	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:28367747G>A	ENST00000302945.2	+	2	505	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	153					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GATGCGCACGGCTTTCACCAG	0.577																																						uc001urr.1																			0				ovary(1)	1						c.(457-459)GCT>ACT		GS homeobox 1							76.0	71.0	73.0					13																	28367747		2203	4300	6503	SO:0001583	missense	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367747G>A	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.457G>A	13.37:g.28367747G>A	ENSP00000304331:p.Ala153Thr						p.A153T	NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	505	+		Lung SC(185;0.0161)	153			Homeobox.		Q9UD62	Missense_Mutation	SNP	ENST00000302945.2	37	c.457G>A	CCDS9326.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722493	0.89298	.	.	ENSG00000169840	ENST00000302945	D	0.95885	-3.84	4.86	4.86	0.63082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	N	0.20304	0.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95131	0.8255	10	0.34782	T	0.22	.	17.5873	0.87986	0.0:0.0:1.0:0.0	.	153	Q9H4S2	GSX1_HUMAN	T	153	ENSP00000304331:A153T	ENSP00000304331:A153T	A	+	1	0	GSX1	27265747	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.965000	0.87945	2.250000	0.74265	0.561000	0.74099	GCT		0.577	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657	
NBEA	26960	broad.mit.edu	37	13	35883701	35883701	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:35883701G>C	ENST00000400445.3	+	36	6409	c.5875G>C	c.(5875-5877)Gca>Cca	p.A1959P	NBEA_ENST00000379939.2_Missense_Mutation_p.A1956P|NBEA_ENST00000540320.1_Missense_Mutation_p.A1959P|NBEA_ENST00000310336.4_Missense_Mutation_p.A1959P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1959					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGGACTTGCATTTATTGA	0.343																																						uc001uvb.2																			0				ovary(9)|large_intestine(2)	11						c.(5875-5877)GCA>CCA		neurobeachin							74.0	68.0	70.0					13																	35883701		1877	4126	6003	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35883701G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5875G>C	13.37:g.35883701G>C	ENSP00000383295:p.Ala1959Pro					NBEA_uc010abi.2_Missense_Mutation_p.A615P	p.A1959P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	36	6081	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1959					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5875G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988237	0.93106	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.58940	0.3;0.3;0.31;0.3	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79614	-0.1730	10	0.72032	D	0.01	.	19.0295	0.92950	0.0:0.0:1.0:0.0	.	1959;1956	Q8NFP9;Q5T321	NBEA_HUMAN;.	P	1959;1959;1956;1959;586	ENSP00000440951:A1959P;ENSP00000383295:A1959P;ENSP00000369271:A1956P;ENSP00000308534:A1959P	ENSP00000308534:A1959P	A	+	1	0	NBEA	34781701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.507000	0.84556	0.655000	0.94253	GCA		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
RNF31	55072	broad.mit.edu	37	14	24620756	24620756	+	Missense_Mutation	SNP	G	G	C	rs370616415		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:24620756G>C	ENST00000324103.6	+	10	2120	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	RNF31_ENST00000382687.3_Missense_Mutation_p.Q449H|RNF31_ENST00000559275.1_Missense_Mutation_p.Q449H|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.Q75H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	600	Interaction with RBCK1.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CATTGTTCCAGCACGGAGGTG	0.627																																						uc001wmn.1																			0				large_intestine(1)|ovary(1)	2						c.(1798-1800)CAG>CAC		ring finger protein 31							60.0	63.0	62.0					14																	24620756		2028	4184	6212	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24620756G>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1800G>C	14.37:g.24620756G>C	ENSP00000315112:p.Gln600His					RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.2_RNA	p.Q600H	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	10	2049	+			600			Interaction with RBCK1.|UBA.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1800G>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430373	0.43122	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.43688	0.94;0.94	5.42	0.126	0.14722	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.245666	0.34200	N	0.004168	T	0.36963	0.0986	N	0.24115	0.695	0.33409	D	0.578357	P;D;D	0.59767	0.892;0.976;0.986	P;P;P	0.54100	0.547;0.459;0.742	T	0.51188	-0.8737	10	0.66056	D	0.02	-5.9584	9.9088	0.41392	0.4359:0.0:0.5641:0.0	.	359;600;449	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	H	600;449	ENSP00000315112:Q600H;ENSP00000372134:Q449H	ENSP00000315112:Q600H	Q	+	3	2	RNF31	23690596	0.998000	0.40836	0.995000	0.50966	0.937000	0.57800	0.276000	0.18716	-0.170000	0.10816	-0.812000	0.03155	CAG		0.627	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
GPR65	8477	broad.mit.edu	37	14	88477519	88477519	+	Missense_Mutation	SNP	G	G	A	rs548128364		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:88477519G>A	ENST00000267549.3	+	2	886	c.328G>A	c.(328-330)Gtt>Att	p.V110I	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	110					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTGCCGTTGATCGGTA	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22403	0.0		0.0	False		,,,				2504	0.0					uc001xvv.2																			0					0						c.(328-330)GTT>ATT		G protein-coupled receptor 65							213.0	203.0	206.0					14																	88477519		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477519G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.328G>A	14.37:g.88477519G>A	ENSP00000267549:p.Val110Ile						p.V110I	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	858	+			110			Helical; Name=3; (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.328G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809465	0.00606	.	.	ENSG00000140030	ENST00000267549	T	0.38401	1.14	5.82	-11.6	0.00059	GPCR, rhodopsin-like superfamily (1);	1.434260	0.04843	N	0.440940	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.08229	-1.0732	10	0.08179	T	0.78	.	3.9515	0.09371	0.3172:0.3469:0.2257:0.1102	.	110	Q8IYL9	PSYR_HUMAN	I	110	ENSP00000267549:V110I	ENSP00000267549:V110I	V	+	1	0	GPR65	87547272	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.842000	0.01681	-2.517000	0.00500	-2.212000	0.00299	GTT		0.433	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
AHNAK2	113146	broad.mit.edu	37	14	105405535	105405535	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:105405535G>A	ENST00000333244.5	-	7	16372	c.16253C>T	c.(16252-16254)gCc>gTc	p.A5418V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A416V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5418						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCAATATTGGCCTCTGGACA	0.557																																						uc010axc.1																			0				ovary(1)	1						c.(16252-16254)GCC>GTC		AHNAK nucleoprotein 2							47.0	46.0	47.0					14																	105405535		1889	4125	6014	SO:0001583	missense	113146					nucleus		g.chr14:105405535G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16253C>T	14.37:g.105405535G>A	ENSP00000353114:p.Ala5418Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	p.A5418V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16373	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5418					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16253C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836071	0.50951	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.04317	3.65;5.42	5.31	1.26	0.21427	.	0.745820	0.11075	U	0.602480	T	0.04588	0.0125	L	0.34521	1.04	0.09310	N	1	B	0.29432	0.244	B	0.32928	0.155	T	0.47381	-0.9122	10	0.24483	T	0.36	.	7.9407	0.29957	0.0:0.3777:0.3771:0.2452	.	5418	Q8IVF2	AHNK2_HUMAN	V	416;5418	ENSP00000450998:A416V;ENSP00000353114:A5418V	ENSP00000353114:A5418V	A	-	2	0	AHNAK2	104476580	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.545000	0.23268	0.034000	0.15491	0.491000	0.48974	GCC		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SECISBP2L	9728	broad.mit.edu	37	15	49284790	49284790	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:49284790C>T	ENST00000559471.1	-	18	3220	c.2957G>A	c.(2956-2958)gGc>gAc	p.G986D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G941D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	986							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ttcAAGCATGCCAGGTACAAG	0.468																																						uc001zxe.1																			0				breast(1)|skin(1)	2						c.(2956-2958)GGC>GAC		SECIS binding protein 2-like							83.0	79.0	80.0					15																	49284790		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284790C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2957G>A	15.37:g.49284790C>T	ENSP00000453854:p.Gly986Asp					SECISBP2L_uc001zxd.1_Missense_Mutation_p.G941D	p.G986D	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3091	-			986					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2957G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182895	0.78677	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73575	-0.76	5.19	5.19	0.71726	.	0.057087	0.64402	D	0.000001	T	0.74160	0.3680	L	0.27053	0.805	0.46981	D	0.999274	D;D	0.69078	0.994;0.997	P;P	0.60682	0.759;0.878	T	0.72593	-0.4246	10	0.37606	T	0.19	.	12.2494	0.54589	0.0:0.9229:0.0:0.0771	.	986;941	Q93073;Q93073-2	SBP2L_HUMAN;.	D	941;986	ENSP00000261847:G941D	ENSP00000261847:G941D	G	-	2	0	SECISBP2L	47072082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.702000	0.92279	0.655000	0.94253	GGC		0.468	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
SLC27A2	11001	broad.mit.edu	37	15	50497504	50497504	+	Missense_Mutation	SNP	G	G	A	rs141444028		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:50497504G>A	ENST00000267842.5	+	4	1148	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	SLC27A2_ENST00000380902.4_Missense_Mutation_p.V253I|SLC27A2_ENST00000544960.1_Missense_Mutation_p.V71I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAATACAACGTCACTGTCAT	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15671	0.0		0.0	False		,,,				2504	0.0					uc001zxw.2																			0				ovary(1)|skin(1)	2						c.(916-918)GTC>ATC		solute carrier family 27 (fatty acid		G	ILE/VAL,ILE/VAL	1,4391	2.1+/-5.4	0,1,2195	148.0	126.0	133.0		757,916	2.4	0.0	15	dbSNP_134	133	0,8590		0,0,4295	no	missense,missense	SLC27A2	NM_001159629.1,NM_003645.3	29,29	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	253/568,306/621	50497504	1,12981	2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497504G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.916G>A	15.37:g.50497504G>A	ENSP00000267842:p.Val306Ile					SLC27A2_uc010bes.2_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V71I	p.V306I	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1148	+		all_lung(180;0.00177)	306			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.916G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789726	0.50102	2.28E-4	0.0	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52983	0.64;0.94;0.94	5.28	2.42	0.29668	AMP-dependent synthetase/ligase (1);	0.324671	0.32273	N	0.006330	T	0.42944	0.1225	L	0.59912	1.85	0.34860	D	0.742483	B;P	0.34522	0.286;0.455	B;B	0.37888	0.226;0.26	T	0.50398	-0.8833	10	0.34782	T	0.22	.	8.9307	0.35668	0.2433:0.0:0.7567:0.0	.	253;306	Q6PF09;O14975	.;S27A2_HUMAN	I	253;306;71	ENSP00000370289:V253I;ENSP00000267842:V306I;ENSP00000444549:V71I	ENSP00000267842:V306I	V	+	1	0	SLC27A2	48284796	1.000000	0.71417	0.046000	0.18839	0.903000	0.53119	4.977000	0.63792	0.394000	0.25230	0.563000	0.77884	GTC		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
C15orf39	56905	broad.mit.edu	37	15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:75501019C>T	ENST00000360639.2	+	2	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	877						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667																																						uc002azp.3																			0					0						c.(2629-2631)ACG>ATG		hypothetical protein LOC56905							23.0	18.0	20.0					15																	75501019		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501019C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2630C>T	15.37:g.75501019C>T	ENSP00000353854:p.Thr877Met					C15orf39_uc002azq.3_Missense_Mutation_p.T877M|C15orf39_uc002azr.3_Missense_Mutation_p.T275M	p.T877M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	2950	+			877					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2630C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298753	0.81025	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61657	-0.7018	10	0.87932	D	0	-17.2293	17.8467	0.88732	0.0:1.0:0.0:0.0	.	439;877	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	M	877;877;275	ENSP00000353854:T877M;ENSP00000378438:T877M	ENSP00000353854:T877M	T	+	2	0	C15orf39	73288072	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	ACG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
C15orf27	123591	broad.mit.edu	37	15	76484332	76484332	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:76484332G>A	ENST00000388942.3	+	9	1068	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	264					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCTGCGCGCGCACCTGGCGC	0.716																																						uc002bbq.2																			0					0						c.(790-792)GCG>GCA		hypothetical protein LOC123591							8.0	11.0	10.0					15																	76484332		2054	4047	6101	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76484332G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.792G>A	15.37:g.76484332G>A						C15orf27_uc010bkp.2_Silent_p.A80A|C15orf27_uc002bbr.2_Silent_p.A80A|C15orf27_uc002bbs.2_5'UTR	p.A264A	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			9	947	+			264			Potential.		Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.792G>A	CCDS10289.2																																																																																				0.716	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	
LOC645752	645752	broad.mit.edu	37	15	78207893	78207893	+	lincRNA	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:78207893C>T	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							AGCAGATTCACCTGAAGGGAG	0.622																																						uc010bky.2																			0					0						c.(1105-1107)GTG>ATG		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78207893C>T																													15.37:g.78207893C>T						LOC645752_uc010umq.1_Missense_Mutation_p.V16M|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank	p.V369M	NR_027024						17	1869	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.1105G>A																																																																																					0.622	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:31072650C>T	ENST00000538906.1	-	3	2383	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	ZNF668_ENST00000535577.1_Silent_p.R533R|ZNF668_ENST00000426488.2_Silent_p.R556R|ZNF668_ENST00000300849.4_Silent_p.R533R|ZNF668_ENST00000539836.3_Silent_p.R556R|ZNF668_ENST00000394983.2_Silent_p.R533R|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCGCTCGTGCCGACGCAGCA	0.672																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2																			0				breast(4)	4						c.(1597-1599)CGG>CGA		zinc finger protein 668							41.0	42.0	42.0					16																	31072650		2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072650C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1599G>A	16.37:g.31072650C>T						ZNF668_uc002eao.2_Silent_p.R533R	p.R533R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1956	-			533			C2H2-type 14.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1599G>A	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
CPNE7	27132	broad.mit.edu	37	16	89655119	89655119	+	Missense_Mutation	SNP	C	C	T	rs145109453		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:89655119C>T	ENST00000268720.5	+	12	1319	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CPNE7_ENST00000319518.8_Missense_Mutation_p.R322W	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	397	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGACCCGCGGAACAGCTG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15494	0.0		0.0	False		,,,				2504	0.0					uc002fnp.2																			0					0						c.(1189-1191)CGG>TGG		copine 7 isoform b		C	TRP/ARG,TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	119.0	91.0	101.0		1189,964	1.6	0.7	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	101,101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	397/634,322/559	89655119	2,12994	2198	4300	6498	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89655119C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1189C>T	16.37:g.89655119C>T	ENSP00000268720:p.Arg397Trp					CPNE7_uc002fnq.2_Missense_Mutation_p.R322W	p.R397W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	12	1319	+		all_hematologic(23;0.0748)	397			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1189C>T	CCDS10980.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.19	2.164507	0.38217	2.27E-4	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.19532	2.37;2.33;2.14	3.75	1.58	0.23477	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.85197	2.74	0.46298	D	0.998979	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.48681	-0.9014	10	0.87932	D	0	-8.211	11.2662	0.49112	0.3438:0.6562:0.0:0.0	.	322;397	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	W	322;397;42	ENSP00000317374:R322W;ENSP00000268720:R397W;ENSP00000435876:R42W	ENSP00000268720:R397W	R	+	1	2	CPNE7	88182620	0.124000	0.22315	0.689000	0.30133	0.159000	0.22180	0.661000	0.25023	0.120000	0.18254	0.313000	0.20887	CGG		0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
NF1	4763	broad.mit.edu	37	17	29508778	29508778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:29508778C>G	ENST00000358273.4	+	7	1088	c.705C>G	c.(703-705)taC>taG	p.Y235*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y235*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Y235*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	235					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGTACCAGATCCCAC	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)		soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM086301	NF1	M		c.(703-705)TAC>TAG		neurofibromin isoform 1							70.0	72.0	71.0					17																	29508778		2203	4296	6499	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508778C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.705C>G	17.37:g.29508778C>G	ENSP00000351015:p.Tyr235*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.2_Nonsense_Mutation_p.Y235*|NF1_uc010csn.1_Nonsense_Mutation_p.Y95*	p.Y235*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1038	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	235					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.705C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485732	0.97607	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5069	0.67758	0.0:0.9283:0.0:0.0717	.	.	.	.	X	235	.	ENSP00000348498:Y235X	Y	+	3	2	NF1	26532904	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.491000	0.35583	2.793000	0.96121	0.655000	0.94253	TAC		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLC4A1	6521	broad.mit.edu	37	17	42330723	42330723	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:42330723G>C	ENST00000262418.6	-	17	2229	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	692	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCGCTCAGGTTTGCTGACA	0.612																																						uc002igf.3																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2074-2076)CCT>GCT		solute carrier family 4, anion exchanger, member							86.0	82.0	83.0					17																	42330723		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42330723G>C		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2074C>G	17.37:g.42330723G>C	ENSP00000262418:p.Pro692Ala						p.P692A	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	17	2223	-		Breast(137;0.014)|Prostate(33;0.0181)	692			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2074C>G	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828400	0.71143	.	.	ENSG00000004939	ENST00000262418	T	0.78481	-1.18	4.91	4.91	0.64330	Bicarbonate transporter, C-terminal (1);	0.121580	0.56097	D	0.000027	D	0.86628	0.5978	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.61070	0.883	D	0.88326	0.2965	10	0.66056	D	0.02	.	17.8012	0.88587	0.0:0.0:1.0:0.0	.	692	P02730	B3AT_HUMAN	A	692	ENSP00000262418:P692A	ENSP00000262418:P692A	P	-	1	0	SLC4A1	39686249	1.000000	0.71417	0.994000	0.49952	0.846000	0.48090	3.871000	0.56077	2.304000	0.77564	0.555000	0.69702	CCT		0.612	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
RNF213	57674	broad.mit.edu	37	17	78282912	78282912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:78282912G>T	ENST00000582970.1	+	14	2739	c.2596G>T	c.(2596-2598)Gag>Tag	p.E866*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.E915*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.E866*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.E866*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	866					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGTTTTACGAGCTGCCAGC	0.502																																						uc002jyf.2																			0											c.(2596-2598)GAG>TAG		hypothetical protein LOC57714							150.0	139.0	142.0					17																	78282912		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:78282912G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2596G>T	17.37:g.78282912G>T	ENSP00000464087:p.Glu866*					uc002jyg.1_Nonsense_Mutation_p.E597*	p.E866*	NM_020954	NP_066005					14	2739	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.2596G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	39	7.778516	0.98483	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	5.38	4.4	0.53042	.	0.411423	0.22600	N	0.057973	.	.	.	.	.	.	0.24859	N	0.992351	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-32.5994	12.6164	0.56580	0.0:0.1661:0.8339:0.0	.	.	.	.	X	866;915;866;866	.	ENSP00000324392:E866X	E	+	1	0	RNF213	75897507	0.015000	0.18098	0.015000	0.15790	0.002000	0.02628	1.186000	0.32078	1.369000	0.46134	0.655000	0.94253	GAG		0.502	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
CNDP2	55748	broad.mit.edu	37	18	72167228	72167228	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr18:72167228T>C	ENST00000324262.4	+	2	336	c.20T>C	c.(19-21)cTg>cCg	p.L7P	CNDP2_ENST00000579847.1_Missense_Mutation_p.L7P|CNDP2_ENST00000324301.8_Missense_Mutation_p.L7P	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	7					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTCACTACCCTGTTTAAGTAC	0.458																																						uc002llm.1																			0				ovary(2)|skin(1)	3						c.(19-21)CTG>CCG		CNDP dipeptidase 2							107.0	94.0	98.0					18																	72167228		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72167228T>C	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.20T>C	18.37:g.72167228T>C	ENSP00000325548:p.Leu7Pro					CNDP2_uc002lln.1_Missense_Mutation_p.L7P|CNDP2_uc002llo.2_Missense_Mutation_p.L7P	p.L7P	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	2	182	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	7					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.20T>C	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559660	0.27827	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09817	2.94;2.94	5.43	5.43	0.79202	.	0.069749	0.64402	D	0.000015	T	0.37376	0.1001	M	0.88842	2.985	0.47276	D	0.999375	P;D;P	0.61080	0.883;0.989;0.883	P;D;P	0.63033	0.806;0.91;0.738	T	0.41360	-0.9513	10	0.62326	D	0.03	0.32	15.1583	0.72761	0.0:0.0:0.0:1.0	.	7;7;7	B4DV28;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	P	7	ENSP00000325548:L7P;ENSP00000325756:L7P	ENSP00000325548:L7P	L	+	2	0	CNDP2	70318208	0.966000	0.33281	0.984000	0.44739	0.423000	0.31445	6.268000	0.72552	2.059000	0.61396	0.459000	0.35465	CTG		0.458	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
ITPKC	80271	broad.mit.edu	37	19	41245286	41245286	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:41245286G>C	ENST00000263370.2	+	7	1906	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	C19orf54_ENST00000594163.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	625					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCCTCTTCGTGCACGACCA	0.652																																						uc002oot.2																			0					0						c.(1873-1875)GTG>CTG		inositol 1,4,5-trisphosphate 3-kinase C							50.0	40.0	43.0					19																	41245286		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41245286G>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1873G>C	19.37:g.41245286G>C	ENSP00000263370:p.Val625Leu						p.V625L	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1906	+			625					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1873G>C	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826328	0.71143	.	.	ENSG00000086544	ENST00000263370	T	0.18810	2.19	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.77820	2.39	0.80722	D	1	P	0.44521	0.837	P	0.51742	0.678	T	0.19910	-1.0291	10	0.48119	T	0.1	-23.8873	17.6734	0.88224	0.0:0.0:1.0:0.0	.	625	Q96DU7	IP3KC_HUMAN	L	625	ENSP00000263370:V625L	ENSP00000263370:V625L	V	+	1	0	ITPKC	45937126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.471000	0.60182	2.779000	0.95612	0.655000	0.94253	GTG		0.652	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194	
SIGLEC5	8778	broad.mit.edu	37	19	52132644	52132644	+	Missense_Mutation	SNP	T	T	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:52132644T>A	ENST00000534261.2	-	4	1066	c.667A>T	c.(667-669)Acc>Tcc	p.T223S	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T223S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T223S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T223S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T223S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	223	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCTCCGTGGTCACCTGAGCT	0.622																																						uc002pxe.2																			0				skin(2)|breast(1)|central_nervous_system(1)	4						c.(667-669)ACC>TCC		sialic acid binding Ig-like lectin 5 precursor							114.0	103.0	107.0					19																	52132644		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132644T>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.667A>T	19.37:g.52132644T>A	ENSP00000473238:p.Thr223Ser						p.T223S	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	806	-		all_neural(266;0.0726)	223			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.667A>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	8.503	0.864713	0.17250	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.03124	4.04;4.04	3.69	1.47	0.22746	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.969423	0.08457	N	0.943000	T	0.02929	0.0087	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.50030	-0.8875	10	0.07990	T	0.79	.	3.7795	0.08674	0.0:0.1217:0.221:0.6573	.	223	O15389	SIGL5_HUMAN	S	223	ENSP00000222107:T223S;ENSP00000415200:T223S	ENSP00000222107:T223S	T	-	1	0	SIGLEC5	56824456	0.008000	0.16893	0.001000	0.08648	0.547000	0.35210	0.682000	0.25335	0.116000	0.18110	0.402000	0.26972	ACC		0.622	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
LILRA6	79168	broad.mit.edu	37	19	54744985	54744985	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:54744985G>T	ENST00000396365.2	-	5	716	c.677C>A	c.(676-678)tCc>tAc	p.S226Y	LILRA6_ENST00000419410.2_Missense_Mutation_p.S226Y|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.S226Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.S226Y	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	226	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCAGGAGGGAGGGCTTCCT	0.632																																						uc002qeu.1																			0				skin(2)	2						c.(676-678)TCC>TAC		leukocyte immunoglobulin-like receptor,							20.0	24.0	23.0					19																	54744985		2197	4271	6468	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744985G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.677C>A	19.37:g.54744985G>T	ENSP00000379651:p.Ser226Tyr					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.S226Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.S226Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S226Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.S87Y	p.S226Y	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	801	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		226			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.677C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507142	0.44558	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00864	5.6;5.6;5.6;5.6	2.42	2.42	0.29668	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.583336	0.15599	N	0.254001	T	0.09468	0.0233	H	0.98295	4.195	0.42799	D	0.993922	D;D;D;D	0.76494	0.982;0.995;0.994;0.999	D;D;P;D	0.79784	0.93;0.955;0.828;0.993	T	0.00391	-1.1769	10	0.87932	D	0	.	8.3872	0.32508	0.0:0.0:1.0:0.0	.	226;226;226;226	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	Y	226	ENSP00000390120:S226Y;ENSP00000411227:S226Y;ENSP00000379651:S226Y;ENSP00000245621:S226Y	ENSP00000245621:S226Y	S	-	2	0	LILRA6	59436797	0.456000	0.25744	0.512000	0.27736	0.176000	0.22953	0.820000	0.27323	1.660000	0.50760	0.174000	0.16983	TCC		0.632	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
ZNF460	10794	broad.mit.edu	37	19	57802944	57802944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:57802944C>G	ENST00000360338.3	+	3	1357	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	ZNF460_ENST00000537645.1_Missense_Mutation_p.F304L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGGCCTTCAACTGCAGGT	0.488																																						uc002qog.2																			0					0						c.(1033-1035)TTC>TTG		zinc finger protein 460							86.0	79.0	81.0					19																	57802944		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802944C>G	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1035C>G	19.37:g.57802944C>G	ENSP00000353491:p.Phe345Leu					ZNF460_uc010ygv.1_Missense_Mutation_p.F304L	p.F345L	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1357	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	345			C2H2-type 6.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1035C>G	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857023	0.51376	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.46063	0.88;0.88	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62270	0.2414	M	0.87456	2.885	0.25324	N	0.989096	D	0.89917	1.0	D	0.87578	0.998	T	0.49466	-0.8937	9	0.87932	D	0	.	3.5728	0.07923	0.0:0.6264:0.0:0.3736	.	345	Q14592	ZN460_HUMAN	L	304;345	ENSP00000446167:F304L;ENSP00000353491:F345L	ENSP00000353491:F345L	F	+	3	2	ZNF460	62494756	0.000000	0.05858	0.524000	0.27887	0.984000	0.73092	-0.278000	0.08490	1.227000	0.43598	0.650000	0.86243	TTC		0.488	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635	
APOB	338	broad.mit.edu	37	2	21227177	21227177	+	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:21227177G>A	ENST00000233242.1	-	28	12178	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4017					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D4017D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAAAAGTCGTCATCTTCAT	0.512																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12049-12051)GAC>GAT		apolipoprotein B precursor	Atorvastatin(DB01076)	G		2,4404	4.2+/-10.8	0,2,2201	110.0	107.0	108.0		12051	-10.2	0.0	2	dbSNP_126	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4017/4564	21227177	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227177G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12051C>T	2.37:g.21227177G>A							p.D4017D	NM_000384	NP_000375	P04114	APOB_HUMAN			28	12179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4017					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12051C>T	CCDS1703.1																																																																																				0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	RNA	SNP	T	T	C	rs11490622	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:114356239T>C	ENST00000538033.2	+	0	2419							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCTTTGCCCGTGTGTCAGACT	0.642													.|||	2373	0.473842	0.5174	0.4135	5008	,	,		16997	0.4256		0.4911	False		,,,				2504	0.4898					uc002tkh.2																			0					0						c.(715-717)CGT>CGC		WAS protein family homolog 1																																						375260							g.chr2:114356239T>C			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356239T>C						WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	p.R239R	NM_182905	NP_878908					6	775	+									Silent	SNP	ENST00000538033.2	37	c.717T>C																																																																																					0.642	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
LCT	3938	broad.mit.edu	37	2	136566637	136566637	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:136566637C>T	ENST00000264162.2	-	8	3290	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1094	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACGGCGTGGGCTATCCTATAT	0.542																																						uc002tuu.1																			0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3280-3282)GCC>ACC		lactase-phlorizin hydrolase preproprotein							47.0	52.0	50.0					2																	136566637		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566637C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3280G>A	2.37:g.136566637C>T	ENSP00000264162:p.Ala1094Thr						p.A1094T	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3291	-			1094			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3280G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	8.655	0.899165	0.17686	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.54866	0.55	5.78	3.9	0.45041	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.338705	0.37906	N	0.001891	T	0.52709	0.1751	L	0.60845	1.875	0.37037	D	0.896973	B	0.15473	0.013	B	0.34931	0.192	T	0.56823	-0.7915	10	0.72032	D	0.01	-6.1697	9.1301	0.36839	0.0:0.7555:0.0:0.2445	.	1094	P09848	LPH_HUMAN	T	1094;526	ENSP00000264162:A1094T	ENSP00000264162:A1094T	A	-	1	0	LCT	136283107	0.989000	0.36119	0.163000	0.22734	0.003000	0.03518	2.661000	0.46758	0.700000	0.31782	0.563000	0.77884	GCC		0.542	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
TTN	7273	broad.mit.edu	37	2	179392028	179392028	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:179392028G>A	ENST00000591111.1	-	313	102988	c.102764C>T	c.(102763-102765)cCg>cTg	p.P34255L	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26956L|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26831L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P27023L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P33328L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35896L			Q8WZ42	TITIN_HUMAN	titin	34255					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTTAGGCGGAATTCCTTT	0.378																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(99982-99984)CCG>CTG		titin isoform N2-A							51.0	43.0	46.0					2																	179392028		1832	4086	5918	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179392028G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102764C>T	2.37:g.179392028G>A	ENSP00000465570:p.Pro34255Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P27023L|TTN_uc010zfi.1_Missense_Mutation_p.P26956L|TTN_uc010zfj.1_Missense_Mutation_p.P26831L|TTN_uc002umq.2_Missense_Mutation_p.P244L	p.P33328L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		312	100207	-			34255					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99983C>T		.	.	.	.	.	.	.	.	.	.	G	15.91	2.973350	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72835	-0.69;-0.1;-0.12;-0.15	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	.	.	.	.	T	0.74989	0.3789	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.996;0.996;0.996;1.0	P;P;P;P;P	0.62298	0.572;0.841;0.841;0.713;0.9	T	0.77558	-0.2543	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	26831;26956;27023;34255;33328	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	L	33328;26831;27023;26956;26828	ENSP00000343764:P33328L;ENSP00000434586:P26831L;ENSP00000340554:P27023L;ENSP00000352154:P26956L	ENSP00000340554:P27023L	P	-	2	0	TTN	179100274	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CCG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALPP	250	broad.mit.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	rs201259070		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378). {ECO:0000269|PubMed:3461452}.		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667																																						uc002vsq.2																			1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(787-789)CGC>TGC		placental alkaline phosphatase preproprotein							73.0	75.0	74.0					2																	233245025		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245025C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.787C>T	2.37:g.233245025C>T	ENSP00000375881:p.Arg263Cys					ALPP_uc002vsr.2_5'Flank	p.R263C	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	952	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	263					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.787C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.825	1.186738	0.21870	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	2.31	0.0197	0.14122	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.003840	0.08014	N	0.990937	D	0.96065	0.8718	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	D	0.88532	0.3103	10	0.51188	T	0.08	.	3.4481	0.07487	0.3001:0.4479:0.0:0.252	.	263	P05187	PPB1_HUMAN	C	263	ENSP00000375881:R263C	ENSP00000375881:R263C	R	+	1	0	ALPP	232953269	0.000000	0.05858	0.953000	0.39169	0.172000	0.22775	-0.022000	0.12480	0.295000	0.22570	0.298000	0.19748	CGC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
ALPPL2	251	broad.mit.edu	37	2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	rs577584936		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTGGCGAAGCACCAGGTGAT	0.662													c|||	1	0.000199681	0.0	0.0	5008	,	,		8954	0.0		0.001	False		,,,				2504	0.0					uc002vss.3																			0				skin(1)	1						c.(778-780)CAC>TAC		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						58.0	58.0	58.0					2																	233273106		2203	4295	6498	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273106C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.778C>T	2.37:g.233273106C>T	ENSP00000295453:p.His260Tyr						p.H260Y	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	831	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	260	H -> R (in Ref. 8; AAH14139).				A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.778C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.328561	0.01309	.	.	ENSG00000163286	ENST00000295453	D	0.96716	-4.1	3.37	-2.4	0.06583	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.898809	0.09832	N	0.750052	D	0.88062	0.6336	N	0.13352	0.335	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77683	-0.2496	10	0.20519	T	0.43	.	3.8883	0.09108	0.4008:0.3656:0.0:0.2336	.	260	P10696	PPBN_HUMAN	Y	260	ENSP00000295453:H260Y	ENSP00000295453:H260Y	H	+	1	0	ALPPL2	232981350	0.000000	0.05858	0.476000	0.27291	0.019000	0.09904	-0.613000	0.05610	-0.118000	0.11851	0.411000	0.27672	CAC		0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
SCAND1	51282	broad.mit.edu	37	20	34542061	34542061	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:34542061T>C	ENST00000373991.3	-	3	1216	c.146A>G	c.(145-147)gAg>gGg	p.E49G	SCAND1_ENST00000305978.2_Missense_Mutation_p.E49G			P57086	SCND1_HUMAN	SCAN domain containing 1	49					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					ACTGGAAGGCTCAGGGGCAGG	0.711																																						uc002xen.1																			0					0						c.(145-147)GAG>GGG		SCAN domain containing protein 1							6.0	6.0	6.0					20																	34542061		2094	4133	6227	SO:0001583	missense	51282				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:34542061T>C	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"""-"""	10566	protein-coding gene	gene with protein product		610416	"""SCAN domain-containing 1"""			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.146A>G	20.37:g.34542061T>C	ENSP00000363103:p.Glu49Gly					SCAND1_uc002xeo.2_Missense_Mutation_p.E49G|SCAND1_uc002xep.2_Missense_Mutation_p.E49G	p.E49G	NM_033630	NP_361012	P57086	SCND1_HUMAN			2	260	-	Breast(12;0.00631)|all_lung(11;0.0233)		49					Q6IAG7	Missense_Mutation	SNP	ENST00000373991.3	37	c.146A>G	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580925	0.46006	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.09538	2.97;2.97	4.93	1.11	0.20524	.	1.201360	0.06511	N	0.738046	T	0.07863	0.0197	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.39482	-0.9612	10	0.72032	D	0.01	.	6.2909	0.21059	0.0:0.0853:0.2996:0.6151	.	49	P57086	SCND1_HUMAN	G	49	ENSP00000301995:E49G;ENSP00000363103:E49G	ENSP00000301995:E49G	E	-	2	0	SCAND1	34005475	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	-0.580000	0.05827	0.185000	0.20105	0.533000	0.62120	GAG		0.711	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078958.2	NM_016558	
DLGAP4	22839	broad.mit.edu	37	20	35060225	35060225	+	Silent	SNP	G	G	A	rs371870979		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:35060225G>A	ENST00000373907.2	+	2	304	c.105G>A	c.(103-105)tcG>tcA	p.S35S	DLGAP4_ENST00000373913.3_Silent_p.S35S|DLGAP4_ENST00000339266.5_Silent_p.S35S|DLGAP4_ENST00000401952.2_Silent_p.S35S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	35					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCTGCTGTCGCCCACGGAGG	0.701																																						uc002xff.2																			0				skin(2)|ovary(1)	3						c.(103-105)TCG>TCA		disks large-associated protein 4 isoform a		G		1,4405	2.1+/-5.4	0,1,2202	34.0	36.0	35.0		105	-3.0	1.0	20		35	0,8596		0,0,4298	no	coding-synonymous	DLGAP4	NM_014902.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		35/990	35060225	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060225G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.105G>A	20.37:g.35060225G>A						DLGAP4_uc010zvp.1_Silent_p.S35S	p.S35S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	540	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	35					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.105G>A																																																																																					0.701	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902	
SHANK3	85358	broad.mit.edu	37	22	51160153	51160153	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr22:51160153A>G	ENST00000414786.2	+	21	4077	c.3850A>G	c.(3850-3852)Agg>Ggg	p.R1284G	SHANK3_ENST00000262795.3_Missense_Mutation_p.R1314G|SHANK3_ENST00000445220.2_Missense_Mutation_p.R1300G			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1298	Pro-rich.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGGAGACCAGGGAGGAGCT	0.677																																						uc003bne.1																			0				central_nervous_system(1)	1						c.(3940-3942)AGG>GGG		SH3 and multiple ankyrin repeat domains 3							13.0	15.0	14.0					22																	51160153		2036	4189	6225	SO:0001583	missense	85358							g.chr22:51160153A>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3850A>G	22.37:g.51160153A>G	ENSP00000464552:p.Arg1284Gly					SHANK3_uc003bnf.1_Missense_Mutation_p.R761G|SHANK3_uc010hbg.1_Missense_Mutation_p.R496G	p.R1314G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	3940	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1314					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.3940A>G		.	.	.	.	.	.	.	.	.	.	A	10.68	1.417296	0.25552	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.39592	1.07;1.07	4.8	-7.43	0.01383	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.68317	2.08	0.09310	N	0.999999	D;D;D	0.67145	0.99;0.981;0.996	P;D;P	0.69824	0.868;0.966;0.867	T	0.59910	-0.7365	10	0.05721	T	0.95	.	18.9	0.92439	0.3386:0.6614:0.0:0.0	.	1298;1299;1314	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	G	1314;1300	ENSP00000442518:R1314G;ENSP00000446078:R1300G	ENSP00000442518:R1314G	R	+	1	2	SHANK3	49507019	0.015000	0.18098	0.618000	0.29105	0.469000	0.32828	-0.024000	0.12435	-1.560000	0.01686	-2.293000	0.00265	AGG		0.677	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420	
DHX30	22907	broad.mit.edu	37	3	47882649	47882649	+	Missense_Mutation	SNP	G	G	A	rs138418233		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:47882649G>A	ENST00000445061.1	+	7	1056	c.649G>A	c.(649-651)Gct>Act	p.A217T	DHX30_ENST00000457607.1_Missense_Mutation_p.A245T|DHX30_ENST00000446256.2_Missense_Mutation_p.A178T|DHX30_ENST00000348968.4_Missense_Mutation_p.A189T	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	217						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGATTCCCACGCTCCACTCAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		21419	0.0		0.001	False		,,,				2504	0.0					uc003cru.2																			0				ovary(2)|skin(2)	4						c.(649-651)GCT>ACT		DEAH (Asp-Glu-Ala-His) box polypeptide 30		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	44.0	45.0	45.0		532,649	2.8	0.8	3	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DHX30	NM_014966.3,NM_138615.2	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	178/1156,217/1195	47882649	1,13005	2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882649G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.649G>A	3.37:g.47882649G>A	ENSP00000405620:p.Ala217Thr					DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.2_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	p.A217T	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	1075	+			217					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.649G>A	CCDS2759.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.033	-1.322013	0.01320	2.27E-4	0.0	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02890	4.12;4.12;4.12;4.14	5.17	2.77	0.32553	.	0.770977	0.12328	N	0.478699	T	0.00998	0.0033	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.46205	-0.9208	10	0.02654	T	1	.	7.8813	0.29624	0.835:0.0:0.165:0.0	.	217;178;245	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	T	178;217;189;245	ENSP00000392601:A178T;ENSP00000405620:A217T;ENSP00000343442:A189T;ENSP00000394682:A245T	ENSP00000343442:A189T	A	+	1	0	DHX30	47857653	0.532000	0.26346	0.809000	0.32408	0.297000	0.27493	2.326000	0.43849	0.285000	0.22329	-0.294000	0.09567	GCT		0.552	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
LAMP3	27074	broad.mit.edu	37	3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:182872086A>G	ENST00000265598.3	-	2	398	c.143T>C	c.(142-144)aTa>aCa	p.I48T	LAMP3_ENST00000466939.1_Missense_Mutation_p.I24T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	48					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.I48T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428																																						uc003flh.3																			1	Substitution - Missense(1)	p.I48T(1)	ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(142-144)ATA>ACA		lysosomal-associated membrane protein 3							202.0	184.0	190.0					3																	182872086		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182872086A>G	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.143T>C	3.37:g.182872086A>G	ENSP00000265598:p.Ile48Thr						p.I48T	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	367	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		48			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.143T>C	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	A	0.743	-0.775624	0.02951	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.36520	1.83;1.85;1.25;1.28	4.73	0.36	0.16097	.	0.990321	0.08215	N	0.980033	T	0.11623	0.0283	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.07482	T	0.82	2.2098	8.2754	0.31868	0.0943:0.5046:0.4011:0.0	.	48	Q9UQV4	LAMP3_HUMAN	T	48;24;48;24	ENSP00000265598:I48T;ENSP00000418912:I24T;ENSP00000419059:I48T;ENSP00000420589:I24T	ENSP00000265598:I48T	I	-	2	0	LAMP3	184354780	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.116000	0.11893	-0.313000	0.08912	ATA		0.428	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						uc003fuw.2																			0					0						c.(208-210)CTT>GTT		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G						SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.L70V							10	1402	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.208C>G																																																																																					0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
UTP3	57050	broad.mit.edu	37	4	71555475	71555475	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:71555475G>A	ENST00000254803.2	+	1	1280	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	361					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGCCTGTGCTGTTACAGATCT	0.363																																						uc003hfo.2																			0					0						c.(1081-1083)GTT>ATT		UTP3, small subunit processome component							63.0	67.0	65.0					4																	71555475		2198	4298	6496	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555475G>A	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1081G>A	4.37:g.71555475G>A	ENSP00000254803:p.Val361Ile						p.V361I	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1280	+			361					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1081G>A	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	7.957	0.746104	0.15710	.	.	ENSG00000132467	ENST00000254803	T	0.31769	1.48	3.89	3.04	0.35103	.	0.811411	0.10399	N	0.679407	T	0.26448	0.0646	L	0.47716	1.5	0.20638	N	0.999875	P	0.34977	0.478	B	0.28849	0.095	T	0.09292	-1.0681	10	0.37606	T	0.19	-0.2699	11.8259	0.52267	0.0863:0.0:0.9137:0.0	.	361	Q9NQZ2	SAS10_HUMAN	I	361	ENSP00000254803:V361I	ENSP00000254803:V361I	V	+	1	0	UTP3	71774339	0.020000	0.18652	0.006000	0.13384	0.653000	0.38743	0.732000	0.26072	0.972000	0.38314	0.655000	0.94253	GTT		0.363	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368	
ANKRD17	26057	broad.mit.edu	37	4	73951059	73951059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:73951059delC	ENST00000358602.4	-	30	7182	c.7066delG	c.(7066-7068)gcafs	p.A2356fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.A2243fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.A2105fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2356					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGGGGTGCCCCAGGTCCG	0.463																																						uc003hgp.2																			0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(7066-7068)GCAfs		ankyrin repeat domain protein 17 isoform a							137.0	142.0	141.0					4																	73951059		2203	4300	6503	SO:0001589	frameshift_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951059delC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7066delG	4.37:g.73951059delC	ENSP00000351416:p.Ala2356fs					ANKRD17_uc003hgo.2_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.2_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.2_Frame_Shift_Del_p.A2355fs	p.A2356fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7183	-	Breast(15;0.000295)		2356					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	c.7066delG	CCDS34004.1																																																																																				0.463	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
TRIML1	339976	broad.mit.edu	37	4	189068417	189068417	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:189068417C>T	ENST00000332517.3	+	6	1438	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	433	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TACAGCTTCCCGCAGGCTTCT	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1297-1299)CCG>CTG		tripartite motif family-like 1							104.0	100.0	101.0					4																	189068417		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068417C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1298C>T	4.37:g.189068417C>T	ENSP00000327738:p.Pro433Leu					TRIML1_uc003izn.1_Missense_Mutation_p.P157L	p.P433L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1413	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	433			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1298C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	15.68	2.903974	0.52333	.	.	ENSG00000184108	ENST00000332517	T	0.68479	-0.33	5.05	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000090	T	0.70789	0.3264	L	0.38838	1.175	0.46317	D	0.998981	D	0.69078	0.997	P	0.60949	0.881	T	0.70328	-0.4902	10	0.48119	T	0.1	-12.5348	14.156	0.65417	0.0:1.0:0.0:0.0	.	433	Q8N9V2	TRIML_HUMAN	L	433	ENSP00000327738:P433L	ENSP00000327738:P433L	P	+	2	0	TRIML1	189305411	0.023000	0.18921	0.965000	0.40720	0.363000	0.29612	0.481000	0.22260	2.818000	0.97014	0.645000	0.84053	CCG		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
EGFLAM	133584	broad.mit.edu	37	5	38438444	38438444	+	Missense_Mutation	SNP	C	C	T	rs200259259		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:38438444C>T	ENST00000354891.3	+	17	2697	c.2351C>T	c.(2350-2352)gCg>gTg	p.A784V	EGFLAM_ENST00000397202.2_Missense_Mutation_p.A150V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.A550V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.A784V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	784	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGAATGCGGCCCACCCC	0.547																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			0				pancreas(3)|skin(3)|ovary(1)	7						c.(2350-2352)GCG>GTG		EGF-like, fibronectin type III and laminin G							60.0	62.0	62.0					5																	38438444		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38438444C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2351C>T	5.37:g.38438444C>T	ENSP00000346964:p.Ala784Val					EGFLAM_uc003jlb.1_Missense_Mutation_p.A784V|EGFLAM_uc003jle.1_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.1_Missense_Mutation_p.A150V	p.A784V	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			17	2675	+	all_lung(31;0.000385)		784			Laminin G-like 2.|EGF-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2351C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357047	0.82243	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.83335	0.85;0.69;-1.25;-1.71	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Epidermal growth factor-like, type 3 (1);	0.165528	0.52532	D	0.000065	D	0.87916	0.6298	M	0.76170	2.325	0.80722	D	1	D;D;P	0.54964	0.967;0.969;0.936	P;P;B	0.50490	0.642;0.536;0.388	D	0.88263	0.2924	10	0.54805	T	0.06	-9.8195	19.9065	0.97010	0.0:1.0:0.0:0.0	.	550;784;784	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	784;784;550;150;550	ENSP00000346964:A784V;ENSP00000313084:A784V;ENSP00000337607:A550V;ENSP00000380385:A150V	ENSP00000313084:A784V	A	+	2	0	EGFLAM	38474201	1.000000	0.71417	0.046000	0.18839	0.986000	0.74619	7.411000	0.80078	2.696000	0.92011	0.655000	0.94253	GCG		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
IL31RA	133396	broad.mit.edu	37	5	55210699	55210699	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:55210699C>T	ENST00000447346.2	+	14	1826	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	IL31RA_ENST00000490985.1_Silent_p.P445P|IL31RA_ENST00000359040.5_Silent_p.P587P|IL31RA_ENST00000354961.4_Silent_p.P568P|IL31RA_ENST00000396834.1_Silent_p.P568P	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	555					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGTTGGCCCACCGTTCCCA	0.423																																						uc003jql.2																			0				ovary(1)	1						c.(1759-1761)CCC>CCT		gp130-like monocyte receptor							118.0	104.0	108.0					5																	55210699		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55210699C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1761C>T	5.37:g.55210699C>T						IL31RA_uc003jqm.2_Silent_p.P555P|IL31RA_uc003jqn.2_Silent_p.P587P|IL31RA_uc003jqo.2_Silent_p.P445P	p.P587P	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			14	1826	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	555			Cytoplasmic (Potential).		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1761C>T	CCDS3970.2																																																																																				0.423	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
MAST4	375449	broad.mit.edu	37	5	66462447	66462447	+	Silent	SNP	C	C	T	rs368465061		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:66462447C>T	ENST00000403625.2	+	29	7735	c.7440C>T	c.(7438-7440)agC>agT	p.S2480S	MAST4_ENST00000405643.1_Silent_p.S2301S|MAST4_ENST00000403666.1_Silent_p.S2291S|MAST4_ENST00000404260.3_Silent_p.S2483S|MAST4_ENST00000261569.7_Silent_p.S2286S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2483						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCCAGCAGCGACACCTCTT	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jut.1																			0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(6871-6873)AGC>AGT		microtubule associated serine/threonine kinase		C	,	0,4040		0,0,2020	15.0	20.0	19.0		7440,6873	-2.7	0.0	5		19	1,8375		0,1,4187	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	0,1,6207	TT,TC,CC		0.0119,0.0,0.0081	,	2480/2624,2291/2435	66462447	1,12415	2020	4188	6208	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462447C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7440C>T	5.37:g.66462447C>T			OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_uc003juw.2_Silent_p.S2219S|MAST4_uc003jux.2_Silent_p.S44S	p.S2291S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6941	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2483					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6873C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320192	0.10845	0.0	1.19E-4	ENSG00000069020	ENST00000443808	.	.	.	4.52	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8776	10.9447	0.47294	0.0:0.257:0.0:0.743	.	.	.	.	X	1537	.	.	R	+	1	2	MAST4	66498203	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.386000	0.07370	-0.480000	0.06803	0.462000	0.41574	CGA		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
TTC37	9652	broad.mit.edu	37	5	94838702	94838702	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:94838702C>G	ENST00000358746.2	-	32	3521	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1075						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGGCTCTCTCATAGGCTGTT	0.368																																						uc003klb.2																			0				ovary(3)|pancreas(1)	4						c.(3223-3225)GAG>CAG		tetratricopeptide repeat domain 37							109.0	103.0	105.0					5																	94838702		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94838702C>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3223G>C	5.37:g.94838702C>G	ENSP00000351596:p.Glu1075Gln						p.E1075Q	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			32	3493	-			1075			TPR 18.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3223G>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022260	0.75275	.	.	ENSG00000198677	ENST00000358746	T	0.38401	1.14	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.103224	0.64402	D	0.000004	T	0.49847	0.1581	M	0.81802	2.56	0.50039	D	0.999843	D	0.58620	0.983	P	0.52957	0.714	T	0.47935	-0.9078	10	0.20519	T	0.43	.	12.3511	0.55148	0.0:0.9226:0.0:0.0774	.	1075	Q6PGP7	TTC37_HUMAN	Q	1075	ENSP00000351596:E1075Q	ENSP00000351596:E1075Q	E	-	1	0	TTC37	94864458	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.525000	0.67110	2.488000	0.83962	0.585000	0.79938	GAG		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
FBN2	2201	broad.mit.edu	37	5	127611828	127611828	+	Missense_Mutation	SNP	G	G	T	rs199583859		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:127611828G>T	ENST00000508053.1	-	65	8470	c.7496C>A	c.(7495-7497)cCg>cAg	p.P2499Q	FBN2_ENST00000262464.4_Missense_Mutation_p.P2499Q			P35556	FBN2_HUMAN	fibrillin 2	2499	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGGTTTCGGGGACTGGGA	0.433																																						uc003kuu.2																			0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7495-7497)CCG>CAG		fibrillin 2 precursor							169.0	147.0	154.0					5																	127611828		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127611828G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7496C>A	5.37:g.127611828G>T	ENSP00000424571:p.Pro2499Gln						p.P2499Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	59	7935	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2499			EGF-like 42; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7496C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126312	0.77549	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.88201	-2.35;-2.35	5.01	3.2	0.36748	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.102779	0.43579	D	0.000545	D	0.89406	0.6706	N	0.26092	0.79	0.43846	D	0.996432	D	0.89917	1.0	D	0.85130	0.997	D	0.89469	0.3742	10	0.59425	D	0.04	.	11.3219	0.49428	0.0721:0.13:0.7979:0.0	.	2499	P35556	FBN2_HUMAN	Q	2499	ENSP00000262464:P2499Q;ENSP00000424571:P2499Q	ENSP00000262464:P2499Q	P	-	2	0	FBN2	127639727	1.000000	0.71417	0.856000	0.33681	0.985000	0.73830	6.478000	0.73596	1.452000	0.47756	0.655000	0.94253	CCG		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
ATP10B	23120	broad.mit.edu	37	5	160047790	160047790	+	Silent	SNP	C	C	T	rs201458050		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:160047790C>T	ENST00000327245.5	-	15	2826	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	660					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTCATCCGAGTCTGTGG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21998	0.001		0.0	False		,,,				2504	0.0					uc003lym.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1978-1980)TCG>TCA		ATPase, class V, type 10B		C		0,4310		0,0,2155	74.0	77.0	76.0		1980	-10.7	0.0	5		76	1,8519		0,1,4259	no	coding-synonymous	ATP10B	NM_025153.2		0,1,6414	TT,TC,CC		0.0117,0.0,0.0078		660/1462	160047790	1,12829	2155	4260	6415	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047790C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1980G>A	5.37:g.160047790C>T						ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.S218S	p.S660S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2827	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	660			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.1980G>A	CCDS43394.1																																																																																				0.572	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
NKAPL	222698	broad.mit.edu	37	6	28228340	28228340	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28228340A>G	ENST00000343684.3	+	1	1243	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	397										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAGACAAAAGAGAAAGATG	0.368																																						uc003nkt.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1189-1191)AAA>AAG		NFKB activating protein-like							64.0	61.0	62.0					6																	28228340		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28228340A>G	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1191A>G	6.37:g.28228340A>G						ZKSCAN4_uc011dlb.1_5'Flank	p.K397K	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	1243	+			397					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.1191A>G	CCDS34353.1																																																																																				0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
ZKSCAN3	80317	broad.mit.edu	37	6	28333384	28333384	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28333384G>A	ENST00000377255.3	+	7	1236	c.939G>A	c.(937-939)cgG>cgA	p.R313R	ZKSCAN3_ENST00000341464.5_Silent_p.R165R|ZKSCAN3_ENST00000252211.2_Silent_p.R313R	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	313					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAGGGAGGCGGCACATCTGCC	0.493																																						uc003nle.3																			0				skin(2)	2						c.(937-939)CGG>CGA		zinc finger with KRAB and SCAN domains 3							107.0	96.0	100.0					6																	28333384		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333384G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.939G>A	6.37:g.28333384G>A						ZKSCAN3_uc010jrc.2_Silent_p.R313R|ZKSCAN3_uc003nlf.3_Silent_p.R165R|uc010jrd.2_5'Flank	p.R313R	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			6	1155	+			313					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.939G>A	CCDS4650.1																																																																																				0.493	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
MDC1	9656	broad.mit.edu	37	6	30671653	30671653	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:30671653G>A	ENST00000376406.3	-	10	5954	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A	MDC1_ENST00000376405.2_Silent_p.A1505A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1769	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGAATGGCTGTAAGGG	0.542								Other conserved DNA damage response genes																														uc003nrg.3																			0				breast(2)|ovary(1)|kidney(1)	4						c.(5305-5307)GCC>GCT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							74.0	69.0	71.0					6																	30671653		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671653G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5307C>T	6.37:g.30671653G>A						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	p.A1769A	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5747	-			1769			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.5307C>T	CCDS34384.1																																																																																				0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
AIF1	199	broad.mit.edu	37	6	31584614	31584614	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:31584614A>G	ENST00000376059.3	+	6	527	c.381A>G	c.(379-381)aaA>aaG	p.K127K	AIF1_ENST00000376049.4_Silent_p.K73K	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	127					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						ATGAGGAAAAAGCGAGAGAAA	0.493																																					Ovarian(23;358 734 36938 38933 52312)	uc003nuy.2																			0				ovary(1)	1						c.(379-381)AAA>AAG		allograft inflammatory factor 1 isoform 3							76.0	75.0	75.0					6																	31584614		2203	4300	6503	SO:0001819	synonymous_variant	199				actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	g.chr6:31584614A>G	U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"""EF-hand domain containing"""	352	protein-coding gene	gene with protein product	"""interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1"""	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.381A>G	6.37:g.31584614A>G						AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Silent_p.K73K	p.K127K	NM_001623	NP_001614	P55008	AIF1_HUMAN			6	455	+			127					A8K406|O43904|Q9UIV4|Q9UKS9	Silent	SNP	ENST00000376059.3	37	c.381A>G	CCDS4706.1																																																																																				0.493	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3		
ERMARD	55780	broad.mit.edu	37	6	170156477	170156477	+	Missense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:170156477C>A	ENST00000366773.3	+	4	392	c.359C>A	c.(358-360)cCt>cAt	p.P120H	ERMARD_ENST00000588451.1_5'UTR|ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000418781.3_Missense_Mutation_p.P120H|ERMARD_ENST00000366772.2_Missense_Mutation_p.P120H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	120					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTACAATCTCCTGCTATTTCT	0.348																																						uc003qxg.1																			0				ovary(1)	1						c.(358-360)CCT>CAT		hypothetical protein LOC55780							116.0	112.0	113.0					6																	170156477		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170156477C>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.359C>A	6.37:g.170156477C>A	ENSP00000355735:p.Pro120His					C6orf70_uc011ehb.1_Translation_Start_Site|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_Translation_Start_Site	p.P120H	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	4	392	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	120					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.359C>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729493	0.30684	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.43294	0.95	5.75	3.91	0.45181	.	1.003210	0.08034	N	0.993963	T	0.31702	0.0805	L	0.47716	1.5	0.20307	N	0.999916	D;P	0.56287	0.975;0.855	P;P	0.53313	0.723;0.533	T	0.20940	-1.0260	10	0.66056	D	0.02	.	6.8187	0.23845	0.1423:0.709:0.0:0.1487	.	120;120	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	H	120	ENSP00000355735:P120H	ENSP00000355734:P120H	P	+	2	0	C6orf70	169898402	0.002000	0.14202	0.002000	0.10522	0.175000	0.22909	1.679000	0.37597	1.423000	0.47198	0.563000	0.77884	CCT		0.348	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
IQCE	23288	broad.mit.edu	37	7	2613077	2613077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:2613077C>A	ENST00000402050.2	+	6	604	c.420C>A	c.(418-420)taC>taA	p.Y140*	IQCE_ENST00000438376.2_Nonsense_Mutation_p.Y124*|IQCE_ENST00000404984.1_Nonsense_Mutation_p.Y89*|IQCE_ENST00000325979.7_Nonsense_Mutation_p.Y75*	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	140						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGTCTACAGAGAAAAAG	0.343																																						uc003smo.3																			0					0						c.(418-420)TAC>TAA		IQ motif containing E isoform 1							154.0	140.0	144.0					7																	2613077		1847	4084	5931	SO:0001587	stop_gained	23288							g.chr7:2613077C>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.420C>A	7.37:g.2613077C>A	ENSP00000385597:p.Tyr140*					IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc003sml.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smk.3_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.3_Nonsense_Mutation_p.Y75*	p.Y140*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	604	+		Ovarian(82;0.0112)	140					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Nonsense_Mutation	SNP	ENST00000402050.2	37	c.420C>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657088	0.96724	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	.	.	.	5.46	4.39	0.52855	.	0.064498	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6751	14.0415	0.64678	0.0:0.9116:0.0:0.0884	.	.	.	.	X	140;89;176;124;75;75;75	.	ENSP00000313772:Y75X	Y	+	3	2	IQCE	2579603	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.303000	0.43646	2.555000	0.86185	0.655000	0.94253	TAC		0.343	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
MMD2	221938	broad.mit.edu	37	7	4947054	4947054	+	Missense_Mutation	SNP	G	G	T	rs549881451		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:4947054G>T	ENST00000404774.3	-	7	980	c.786C>A	c.(784-786)agC>agA	p.S262R	MMD2_ENST00000401401.3_Missense_Mutation_p.S238R|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	262						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGCAGGGTGCTGGGCAGAT	0.542																																						uc003sno.3																			0				central_nervous_system(1)	1						c.(784-786)AGC>AGA		monocyte to macrophage							100.0	99.0	99.0					7																	4947054		2015	4180	6195	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947054G>T	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.786C>A	7.37:g.4947054G>T	ENSP00000384690:p.Ser262Arg					MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.S238R|MMD2_uc010ksq.2_3'UTR	p.S262R	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	982	-		Ovarian(82;0.0175)	262			Extracellular (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.786C>A	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427742	0.43122	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.43	5.43	0.79202	.	0.589019	0.18994	N	0.125534	T	0.28067	0.0692	N	0.14661	0.345	0.29829	N	0.830188	P;B	0.36909	0.573;0.178	B;B	0.38500	0.275;0.091	T	0.12941	-1.0528	9	0.20046	T	0.44	-19.255	13.1443	0.59452	0.0:0.0:0.8409:0.1591	.	262;238	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	R	262;238	.	ENSP00000384141:S238R	S	-	3	2	MMD2	4913580	0.358000	0.24947	1.000000	0.80357	0.986000	0.74619	1.088000	0.30877	2.552000	0.86080	0.650000	0.86243	AGC		0.542	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403	
KMT2C	58508	broad.mit.edu	37	7	151945049	151945049	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:151945049C>G	ENST00000262189.6	-	14	2688	c.2470G>C	c.(2470-2472)Ggc>Cgc	p.G824R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G824R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	824					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTACCCATGCCAATTTTTGGA	0.408																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2470-2472)GGC>CGC		myeloid/lymphoid or mixed-lineage leukemia 3							322.0	268.0	286.0					7																	151945049		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945049C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2470G>C	7.37:g.151945049C>G	ENSP00000262189:p.Gly824Arg						p.G824R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2689	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	824					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2470G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.54|19.54	3.846490|3.846490	0.71603|0.71603	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.93811|.	-3.25;-3.29|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.47455|.	D|.	0.000234|.	T|T	0.60818|0.60818	0.2298|0.2298	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.54043|0.54043	-0.8352|-0.8352	10|5	0.72032|.	D|.	0.01|.	.|.	19.7692|19.7692	0.96356|0.96356	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	824|.	Q8NEZ4|.	MLL3_HUMAN|.	R|S	824|19	ENSP00000262189:G824R;ENSP00000347325:G824R|.	ENSP00000262189:G824R|.	G|W	-|-	1|2	0|0	MLL3|MLL3	151575982|151575982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.484000|7.484000	0.81180|0.81180	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
ARHGEF10	9639	broad.mit.edu	37	8	1871746	1871746	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:1871746C>T	ENST00000398564.1	+	20	2447	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P753L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P791L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P816L|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.P815L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	816					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTACAGCTTCCCGGGAAGCAG	0.423																																						uc003wpr.2																			0				large_intestine(1)	1						c.(2371-2373)CCC>CTC		Rho guanine nucleotide exchange factor 10							67.0	75.0	72.0					8																	1871746		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871746C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2447C>T	8.37:g.1871746C>T	ENSP00000381571:p.Pro816Leu					ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.2_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.2_Missense_Mutation_p.P471L	p.P791L	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	20	2550	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	816					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2372C>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470384	0.84533	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.991	T	0.61792	-0.6990	10	0.87932	D	0	-27.1954	18.3556	0.90356	0.0:1.0:0.0:0.0	.	816;753;791	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	L	791;753;815;816;816;464	ENSP00000340297:P791L;ENSP00000427909:P753L;ENSP00000431012:P815L;ENSP00000381571:P816L;ENSP00000262112:P816L;ENSP00000427768:P464L	ENSP00000262112:P816L	P	+	2	0	ARHGEF10	1859153	1.000000	0.71417	0.679000	0.29978	0.755000	0.42902	5.389000	0.66255	2.314000	0.78098	0.655000	0.94253	CCC		0.423	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CSPP1	79848	broad.mit.edu	37	8	68024278	68024278	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:68024278G>A	ENST00000262210.5	+	9	1223	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CSPP1_ENST00000412460.1_Missense_Mutation_p.E104K	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	433					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAATGGCTGAGCAACAGAG	0.353																																						uc003xxi.2																			0				ovary(3)|breast(2)	5						c.(1297-1299)GAG>AAG		centrosome spindle pole associated protein 1							146.0	146.0	146.0					8																	68024278		1875	4105	5980	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68024278G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1192G>A	8.37:g.68024278G>A	ENSP00000262210:p.Glu398Lys					CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E398K|CSPP1_uc003xxk.2_Missense_Mutation_p.E104K	p.E433K	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		11	1328	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	433			Potential.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1297G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483269	0.63962	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.48836	0.8;0.83;0.83	5.35	4.42	0.53409	.	0.092488	0.44097	D	0.000486	T	0.49253	0.1546	L	0.58101	1.795	0.30874	N	0.732207	B;P;B;B	0.40083	0.101;0.702;0.167;0.167	B;B;B;B	0.40864	0.098;0.342;0.124;0.124	T	0.61874	-0.6973	10	0.72032	D	0.01	-10.3344	16.6359	0.85059	0.0:0.1417:0.8583:0.0	.	104;398;433;433	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	K	398;433;104;104	ENSP00000262210:E398K;ENSP00000415782:E104K;ENSP00000430092:E104K	ENSP00000262210:E398K	E	+	1	0	CSPP1	68186832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.319000	0.65835	2.514000	0.84764	0.491000	0.48974	GAG		0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
SULF1	23213	broad.mit.edu	37	8	70512942	70512942	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:70512942G>A	ENST00000260128.4	+	9	1556	c.839G>A	c.(838-840)cGc>cAc	p.R280H	SULF1_ENST00000402687.4_Missense_Mutation_p.R280H|SULF1_ENST00000419716.3_Missense_Mutation_p.R280H|SULF1_ENST00000458141.2_Missense_Mutation_p.R280H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	280					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTACAGCGCAAAAGGCTC	0.433																																						uc010lza.1																			0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(838-840)CGC>CAC		sulfatase 1 precursor							164.0	156.0	158.0					8																	70512942		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512942G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.839G>A	8.37:g.70512942G>A	ENSP00000260128:p.Arg280His					SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyg.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_RNA	p.R280H	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1556	+	Breast(64;0.0654)		280					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.839G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089182	0.94100	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.83012	2.62	0.80722	D	1	P	0.43412	0.806	B	0.41466	0.358	D	0.96723	0.9534	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	280	Q8IWU6	SULF1_HUMAN	H	280	ENSP00000403040:R280H;ENSP00000260128:R280H;ENSP00000385704:R280H;ENSP00000390315:R280H	ENSP00000260128:R280H	R	+	2	0	SULF1	70675496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.433	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
ZFHX4	79776	broad.mit.edu	37	8	77617628	77617628	+	Missense_Mutation	SNP	G	G	A	rs529333807		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:77617628G>A	ENST00000521891.2	+	2	1753	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M435I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M435I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M435I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCAAGATGTCAGAGAGCA	0.488										HNSCC(33;0.089)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					uc003yav.2																			0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1303-1305)ATG>ATA		zinc finger homeodomain 4							53.0	52.0	52.0					8																	77617628		1982	4175	6157	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617628G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1305G>A	8.37:g.77617628G>A	ENSP00000430497:p.Met435Ile	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yau.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	p.M435I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1692	+			435					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1305G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	5.837	0.338711	0.11069	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46451	0.87;0.92;0.88;0.87	5.5	4.63	0.57726	.	0.150964	0.31427	U	0.007664	T	0.21962	0.0529	N	0.08118	0	0.28842	N	0.896556	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.11941	-1.0567	10	0.19590	T	0.45	.	11.3335	0.49490	0.1441:0.0:0.8559:0.0	.	435;435;435;435	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	435	ENSP00000430497:M435I;ENSP00000399605:M435I;ENSP00000050961:M435I;ENSP00000430848:M435I	ENSP00000050961:M435I	M	+	3	0	ZFHX4	77780183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.317000	0.59184	1.561000	0.49584	0.655000	0.94253	ATG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
RGS22	26166	broad.mit.edu	37	8	101018320	101018320	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:101018320T>C	ENST00000360863.6	-	16	2573	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E	RGS22_ENST00000523287.1_Silent_p.E612E|RGS22_ENST00000523437.1_Silent_p.E781E|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	793					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373																																						uc003yjb.1																			0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2377-2379)GAA>GAG		regulator of G-protein signaling 22							85.0	78.0	80.0					8																	101018320		1824	4087	5911	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101018320T>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2379A>G	8.37:g.101018320T>C						RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_RNA	p.E793E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		16	2574	-			793					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.2379A>G	CCDS43758.1																																																																																				0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
ANKS6	203286	broad.mit.edu	37	9	101530526	101530526	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:101530526C>T	ENST00000353234.4	-	11	2026	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N	ANKS6_ENST00000375018.1_Missense_Mutation_p.S660N|ANKS6_ENST00000540940.1_Missense_Mutation_p.S465N|ANKS6_ENST00000375019.2_Missense_Mutation_p.S359N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	660	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTGTCTATGCTGCCACCTGA	0.537																																						uc004ayu.2																			0				ovary(2)	2						c.(1978-1980)AGC>AAC		ankyrin repeat and sterile alpha motif domain							61.0	62.0	62.0					9																	101530526		2033	4177	6210	SO:0001583	missense	203286							g.chr9:101530526C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1979G>A	9.37:g.101530526C>T	ENSP00000297837:p.Ser660Asn					ANKS6_uc004ayt.2_Missense_Mutation_p.S359N|ANKS6_uc004ayv.1_Missense_Mutation_p.S122N|ANKS6_uc004ayw.1_Missense_Mutation_p.S242N|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.S660N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			11	2000	-		Acute lymphoblastic leukemia(62;0.0527)	660			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1979G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910617	0.92107	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.72051	1.53;-0.62;-0.62;1.8	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.63843	1.955	0.46798	D	0.999204	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.81289	-0.1000	10	0.46703	T	0.11	-29.643	17.7344	0.88388	0.0:1.0:0.0:0.0	.	660;660	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	N	359;660;660;465	ENSP00000364159:S359N;ENSP00000364158:S660N;ENSP00000297837:S660N;ENSP00000442189:S465N	ENSP00000297837:S660N	S	-	2	0	ANKS6	100570347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.258000	0.72487	2.797000	0.96272	0.561000	0.74099	AGC		0.537	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
OR13C4	138804	broad.mit.edu	37	9	107288582	107288582	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:107288582T>C	ENST00000277216.3	-	1	908	c.909A>G	c.(907-909)gtA>gtG	p.V303V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGCAGCTTTTACATCTTTAT	0.373																																						uc011lvn.1																			0				skin(1)	1						c.(907-909)GTA>GTG		olfactory receptor, family 13, subfamily C,							55.0	61.0	59.0					9																	107288582		2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288582T>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.909A>G	9.37:g.107288582T>C							p.V303V	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	909	-			303			Cytoplasmic (Potential).		Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.909A>G	CCDS35088.1																																																																																				0.373	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1		
SARDH	1757	broad.mit.edu	37	9	136594905	136594905	+	Missense_Mutation	SNP	C	C	G	rs141160856	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:136594905C>G	ENST00000371872.4	-	6	1154	c.897G>C	c.(895-897)gaG>gaC	p.E299D	SARDH_ENST00000298628.5_Missense_Mutation_p.E299D|SARDH_ENST00000439388.1_Missense_Mutation_p.E299D|SARDH_ENST00000422262.2_Missense_Mutation_p.E131D|SARDH_ENST00000371867.1_Missense_Mutation_p.E210D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	299					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCGATGCGCTCGGTGACGA	0.632																																						uc004cep.3																			0					0						c.(895-897)GAG>GAC		sarcosine dehydrogenase precursor		C	ASP/GLU,ASP/GLU	4,4402	8.1+/-20.4	0,4,2199	102.0	84.0	90.0		897,897	-0.2	1.0	9	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	45,45	0,4,6499	GG,GC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	299/919,299/919	136594905	4,13002	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594905C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.897G>C	9.37:g.136594905C>G	ENSP00000360938:p.Glu299Asp					SARDH_uc004ceo.2_Missense_Mutation_p.E299D|SARDH_uc011mdn.1_Missense_Mutation_p.E299D|SARDH_uc011mdo.1_Missense_Mutation_p.E131D	p.E299D	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1031	-			299					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.897G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594778	0.66219	9.08E-4	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	T;T;T;D;D	0.82344	1.28;1.28;1.28;-1.6;-1.6	5.02	-0.153	0.13403	FAD dependent oxidoreductase (1);	0.051601	0.85682	D	0.000000	D	0.86904	0.6045	L	0.60067	1.865	0.50632	D	0.999887	D	0.89917	1.0	D	0.97110	1.0	D	0.84444	0.0584	10	0.54805	T	0.06	-35.195	10.8795	0.46929	0.0:0.6153:0.0:0.3847	.	299	Q9UL12	SARDH_HUMAN	D	299;299;131;299;299;299;210;277;299	ENSP00000360938:E299D;ENSP00000403084:E299D;ENSP00000415537:E131D;ENSP00000360933:E210D;ENSP00000298628:E299D	ENSP00000298628:E299D	E	-	3	2	SARDH	135584726	1.000000	0.71417	0.956000	0.39512	0.873000	0.50193	1.210000	0.32370	-0.061000	0.13110	0.467000	0.42956	GAG		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
APOO	79135	broad.mit.edu	37	X	23899048	23899048	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:23899048G>A	ENST00000379226.4	-	2	262	c.31C>T	c.(31-33)Cca>Tca	p.P11S	APOO_ENST00000379220.3_Missense_Mutation_p.P11S	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	11					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGCTGGCTGGCCCCACGGAC	0.458																																						uc004dax.2																			0					0						c.(31-33)CCA>TCA		apolipoprotein O precursor							67.0	59.0	62.0					X																	23899048		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23899048G>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.31C>T	X.37:g.23899048G>A	ENSP00000368528:p.Pro11Ser					APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.P11S	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			2	262	-			11					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.31C>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469427	0.26423	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	T;T	0.15603	2.41;2.41	5.01	4.14	0.48551	.	0.172727	0.51477	D	0.000082	T	0.14485	0.0350	L	0.49350	1.555	0.19300	N	0.999979	B	0.24043	0.096	B	0.17098	0.017	T	0.09143	-1.0688	10	0.42905	T	0.14	-0.7104	7.3513	0.26693	0.1165:0.0:0.8835:0.0	.	11	Q9BUR5	APOO_HUMAN	S	11	ENSP00000368528:P11S;ENSP00000368522:P11S	ENSP00000368522:P11S	P	-	1	0	APOO	23808969	0.983000	0.35010	0.865000	0.33974	0.891000	0.51852	3.221000	0.51215	2.444000	0.82710	0.600000	0.82982	CCA		0.458	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122	
MAGEB3	4114	broad.mit.edu	37	X	30254384	30254384	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:30254384A>G	ENST00000361644.2	+	5	1080	c.343A>G	c.(343-345)Aca>Gca	p.T115A		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	115	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATCATGAAGACAAATATGTT	0.403																																						uc004dca.1																			0					0						c.(343-345)ACA>GCA		melanoma antigen family B, 3							62.0	55.0	57.0					X																	30254384		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254384A>G	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.343A>G	X.37:g.30254384A>G	ENSP00000355198:p.Thr115Ala						p.T115A	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1080	+			115			MAGE.		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.343A>G	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	A	4.776	0.144306	0.09134	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01474	4.85;4.85	4.1	-6.11	0.02131	.	0.450495	0.19069	N	0.123553	T	0.00724	0.0024	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.07325	T	0.83	.	8.812	0.34974	0.1826:0.0:0.6959:0.1215	.	115	O15480	MAGB3_HUMAN	A	115	ENSP00000368271:T115A;ENSP00000355198:T115A	ENSP00000355198:T115A	T	+	1	0	MAGEB3	30164305	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.241000	0.02911	-1.653000	0.01500	0.486000	0.48141	ACA		0.403	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365	
CXorf65	158830	broad.mit.edu	37	X	70324148	70324148	+	Splice_Site	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:70324148C>T	ENST00000374251.5	-	5	474	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	142										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CAAGTCTTACCGGGACACTCG	0.517																																						uc011mpo.1																			0				central_nervous_system(1)	1						c.(424-426)CCG>CCA		hypothetical protein LOC158830							76.0	60.0	65.0					X																	70324148		2203	4300	6503	SO:0001630	splice_region_variant	158830							g.chrX:70324148C>T	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.426+1G>A	X.37:g.70324148C>T						CXorf65_uc011mpp.1_Silent_p.P94P	p.P142P	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			5	440	-			142						Silent	SNP	ENST00000374251.5	37	c.426G>A	CCDS35324.1																																																																																				0.517	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265	Silent
STAG2	10735	broad.mit.edu	37	X	123182854	123182854	+	Splice_Site	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:123182854G>T	ENST00000371160.1	+	10	1109		c.e10-1		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTTTACAGCTTCAGGAAA	0.308																																						uc004etz.3																			0				ovary(4)|skin(1)	5						c.e9-1		stromal antigen 2 isoform b							93.0	85.0	88.0					X																	123182854		2203	4294	6497	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123182854G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.820-1G>T	X.37:g.123182854G>T						STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice	p.L274_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			9	1159	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.820_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603616	0.87157	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1337	0.89610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123010535	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.751000	0.98889	2.325000	0.78763	0.600000	0.82982	.		0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron
SPANXN4	441525	broad.mit.edu	37	X	142121936	142121936	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:142121936G>A	ENST00000446864.1	+	2	301	c.204G>A	c.(202-204)gaG>gaA	p.E68E	SPANXN4_ENST00000370504.3_Silent_p.E67E	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	68										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAACTGGAGAATAACCAGC	0.413																																						uc004fbv.3																			0				ovary(1)	1						c.(202-204)GAG>GAA		SPANX family, member N4							50.0	46.0	47.0					X																	142121936		1925	4111	6036	SO:0001819	synonymous_variant	441525							g.chrX:142121936G>A	DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.204G>A	X.37:g.142121936G>A							p.E68E	NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN			2	301	+	Acute lymphoblastic leukemia(192;6.56e-05)		68					Q0ZNK6|Q5W0S6	Silent	SNP	ENST00000446864.1	37	c.204G>A	CCDS48178.1																																																																																				0.413	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377539.1	NM_001009613	
BRCC3	79184	broad.mit.edu	37	X	154344437	154344437	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:154344437G>C	ENST00000369462.1	+	9	754	c.729G>C	c.(727-729)gaG>gaC	p.E243D	BRCC3_ENST00000330045.7_Missense_Mutation_p.E218D|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.E243D|BRCC3_ENST00000340647.4_Missense_Mutation_p.E219D	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	243					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCAGGAGGAGCAGGATGCGT	0.478																																						uc004fna.2																			0				lung(3)|ovary(1)|large_intestine(1)|breast(1)	6						c.(727-729)GAG>GAC		BRCA1/BRCA2-containing complex, subunit 3							73.0	66.0	68.0					X																	154344437		1994	4162	6156	SO:0001583	missense	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154344437G>C	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.729G>C	X.37:g.154344437G>C	ENSP00000358474:p.Glu243Asp					BRCC3_uc004fnb.2_Missense_Mutation_p.E218D	p.E243D	NM_024332	NP_077308	P46736	BRCC3_HUMAN			9	822	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		243					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.729G>C	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866332	0.71949	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000411985;ENST00000399042	T;T;T;T;T	0.59772	0.24;0.26;0.27;0.51;0.29	4.78	0.16	0.14972	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.61826	-0.6983	10	0.31617	T	0.26	-13.8734	9.3933	0.38386	0.5036:0.0:0.4964:0.0	.	218;243	P46736-2;P46736	.;BRCC3_HUMAN	D	219;218;243;219;243	ENSP00000344103:E219D;ENSP00000328641:E218D;ENSP00000358474:E243D;ENSP00000413170:E219D;ENSP00000381998:E243D	ENSP00000328641:E218D	E	+	3	2	BRCC3	153997631	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.671000	0.25172	-0.222000	0.09958	0.594000	0.82650	GAG		0.478	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332	
